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  • 1. Anttonen, Anna-Kaisa
    et al.
    Mahjneh, Ibrahim
    Hämäläinen, Riikka H
    Lagier-Tourenne, Clotilde
    Kopra, Outi
    Waris, Laura
    Anttonen, Mikko
    Joensuu, Tarja
    Kalimo, Hannu
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för genetik och patologi.
    Paetau, Anders
    Tranebjaerg, Lisbeth
    Chaigne, Denys
    Koenig, Michel
    Eeg-Olofsson, Orvar
    Institutionen för kvinnors och barns hälsa.
    Udd, Bjarne
    Somer, Mirja
    Somer, Hannu
    Lehesjoki, Anna-Elina
    The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.2005Ingår i: Nat Genet, ISSN 1061-4036, Vol. 37, nr 12, s. 1309-11Artikel i tidskrift (Refereegranskat)
  • 2.
    Bajic, Dragan
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för onkologi, radiologi och klinisk immunologi, Enheten för radiologi.
    Wang, Cheng
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för onkologi, radiologi och klinisk immunologi, Enheten för radiologi.
    Kumlien, Eva
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Mattsson, Peter
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Lundberg, Staffan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Raininko, Raili
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för onkologi, radiologi och klinisk immunologi.
    Incomplete inversion of the hippocampus: a common developmental anomaly2008Ingår i: European Radiology, ISSN 0938-7994, E-ISSN 1432-1084, Vol. 18, nr 1, s. 138-142Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Incomplete inversion of the hippocampus, an imperfect fetal development, has been described in patients with epilepsy or severe midline malformations. We studied this condition in a nonepileptic population without obvious developmental anomalies. We analyzed the coronal MR images of 50 women and 50 men who did not have epilepsy. Twenty of them were healthy volunteers and 80 were patients without obvious intracranial developmental anomalies, intracranial masses, hydrocephalus or any condition affecting the temporal lobes. If the entire hippocampus (the head could not be evaluated) were affected, the incomplete inversion was classified as total, otherwise as partial. Incomplete inversion of the hippocampus was found in 19/100 subjects (9 women, 10 men). It was unilateral, always on the left side, in 13 subjects (4 women, 9 men): 9 were of the total type, 4 were partial. It was bilateral in six subjects (five women, one man): four subjects had total types bilaterally, two had a combination of total and partial types. The collateral sulcus was vertically oriented in all subjects with a deviating hippocampal shape. We conclude that incomplete inversion of the hippocampus is not an unusual morphologic variety in a nonepileptic population without other obvious intracranial developmental anomalies.

  • 3.
    Bakke, Kristin A
    et al.
    National Centre for Epilepsy, Oslo University Hospital, Oslo, Norway.
    Larsson, Pål G
    Department of Neurosurgery, Oslo University Hospital, Oslo, Norway.
    Eriksson, Ann-Sofie
    National Centre for Epilepsy, Oslo University Hospital, Oslo, Norway.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Levetiracetam reduces the frequency of interictal epileptiform discharges during NREM sleep in children with ADHD2011Ingår i: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 15, nr 6, s. 532-538Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    BACKGROUND:

    Symptoms of attention deficit hyperactivity disorder (ADHD) are more common in children with epilepsy than in the general paediatric population. Epileptiform discharges in EEG may be seen in children with ADHD also in those without seizure disorders. Sleep enhances these discharges which may be suppressed by levetiracetam.

    AIM:

    To assess the effect of levetiracetam on focal epileptiform discharges during sleep in children with ADHD.

    METHOD:

    In this retrospective study a new semi-automatic quantitative method based on the calculation of spike index in 24-h ambulatory EEG recordings was applied. Thirty-five ADHD children, 17 with focal epilepsy, one with generalised epilepsy, and 17 with no seizure disorder were evaluated. Follow-up 24-h EEG recordings were performed after a median time of four months.

    RESULTS:

    Mean spike index was 50 prior to levetiracetam treatment and 21 during treatment. Seventeen children had no focal interictal epileptiform discharges in EEG at follow-up. Five children had a more than 50% reduction in spike index. Thus, a more than 50% reduction in spike index was found in 22/35 children (63%). Out of these an improved behaviour was noticed in 13 children (59%).

    CONCLUSION:

    This study shows that treatment with levetiracetam reduces interictal epileptiform discharges in children with ADHD. There is a complex relationship between epilepsy, ADHD and epileptiform activity, why it is a need for prospective studies in larger sample sizes, also to ascertain clinical benefits.

  • 4.
    Björk, Anne
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Svendsen, P
    Moström, U
    Pellettieri, L
    Endovascular treatment of a spinal arteriovenous malformation in a 21-month-old boy1994Ingår i: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 83, nr 12, s. 1326-1331Artikel i tidskrift (Övrigt vetenskapligt)
    Abstract [en]

    Reports of spinal arteriovenous malformations in children are rare. This case report describes a 21-month-old boy whose first symptom was attacks of abdominal pain, followed gradually by neurological symptoms. The diagnosis was made using magnetic resonance imaging and spinal angiography, and the patient was successfully treated with embolization.

  • 5. Brandberg, Göran
    et al.
    Raininko, Raili
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för onkologi, radiologi och klinisk immunologi.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents2004Ingår i: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 8, nr 1, s. 35-44Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    BACKGROUND: Hypothalamic hamartoma with gelastic seizures (HHGS) is an uncommon, often unrecognized, epileptic syndrome with onset of symptoms during childhood. AIM: In order to study the occurrence, clinical symptoms and different investigations of HHGS in Swedish children and adolescents, a nationwide survey was undertaken. Methods. Twelve patients, three females, aged 5 to 19 years were identified and their hospital records reviewed. MRI examinations were reinvestigated. RESULTS: Gelastic seizures were noted before the age of six months in seven patients in at least three as early as the neonatal period. During the course of disease one or more other seizure types developed in 11 patients. Behaviour disorder became subsequently obvious in ten patients, and mental retardation was diagnosed in seven. Precocious puberty was diagnosed in five patients. A total of 46 MRI examinations were performed in 11 patients, revealing hypothalamic tumors, eight of which were drooping with a broad base. Interictal and ictal EEG examinations were pathological in 10 patients with nonspecific results. Nonspecific results were also found on SPECT and PET performed in six and two patients, respectively. Available antiepileptic drugs had little or no effect on gelastic seizures, but some effect on other seizure types. Precocious puberty was treated with a GnRH-agonist. Neurosurgical treatment of the hypothalamic hamartoma, performed in three patients, had a rather good outcome concerning gelastic seizures and behaviour. Vagal nerve stimulation in five patients had no effect. CONCLUSIONS: Review of the literature and experience from this group's own cases confirms that early diagnosis of HHGS is important. Hypothalamic hamartoma should be considered in any child with laughing attacks. MRI investigation is compulsory, and neurosurgery the most important treatment.

  • 6. Chioza, Barry
    et al.
    Everett, Kate
    Aschauer, Harald
    Brouwer, Oebele
    Callenbach, Petra
    Covanis, Athanasios
    Dulac, Olivier
    Durner, Martina
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Feucht, Martha
    Friis, Mogens
    Heils, Armin
    Kjeldsen, Marianne
    Larsson, Katrin
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Lehesjoki, Anna-Elina
    Nabbout, Rima
    Olsson, Ingrid
    Sander, Thomas
    Siren, Auli
    Robinson, Robert
    Rees, Michele
    Gardiner, R Mark
    Evaluation of CACNA1H in European patients with childhood absence epilepsy.2006Ingår i: Epilepsy Res, ISSN 0920-1211, Vol. 69, nr 2, s. 177-81Artikel i tidskrift (Refereegranskat)
  • 7.
    Danfors, Torsten
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap. neurologi.
    von Knorring, Anne-Liis
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap. BUP.
    Hartvig, Per
    Hospital Pharmacy.
    Långström, Bengt
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för radiologi, onkologi och strålningsvetenskap, Enheten för nuklearmedicin och PET.
    Moulder, Robert
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för radiologi, onkologi och strålningsvetenskap, Enheten för nuklearmedicin och PET.
    Strömberg, Bo
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Torstenson, Richard
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för radiologi, onkologi och strålningsvetenskap, Enheten för nuklearmedicin och PET.
    Wester, Ulrika
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Watanabe, Yasuyoshi
    Department of Physiology, Osaka City University Graduate School of Medicine, Japan.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Tetrahydrobiopterin in the treatment of children with autistic disorder. A double-blind placebo-controlled crossover study2005Ingår i: Journal of Clinical Psychopharmacology, ISSN 0271-0749, E-ISSN 1533-712X, Vol. 25, nr 5, s. 485-489Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Twelve children, all boys, aged 4 to 7 years, with a diagnosis of autistic disorder and low concentrations of spinal 6R-l-erythro-5,6,7,8-tetrahydrobiopterin (tetrahydrobiopterin) were selected to participate in a double-blind, randomized, placebo-controlled, crossover study. The children received a daily dose of 3 mg tetrahydrobiopterin per kilogram during 6 months alternating with placebo. Treatment-induced effects were assessed with the Childhood Autism Rating Scale every third month. The results showed small nonsignificant changes in the total scores of Childhood Autism Rating Scale after 3- and 6-month treatment. Post hoc analysis looking at the 3 core symptoms of autism, that is, social interaction, communication, and stereotyped behaviors, revealed a significant improvement of the social interaction score after 6 months of active treatment. In addition, a high positive correlation was found between response of the social interaction score and IQ. The results indicate a possible effect of tetrahydrobiopterin treatment.

  • 8. Edebol Eeg-Olofsson, K
    et al.
    Eeg-Olofsson, O
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Electroencephalographic Patterns in Epilepsy.2006Ingår i: In: Paediatric Clinical Neurophysiology, K Edebol Eeg-Olofsson, ed. Mac Keith Press, London, 2006, s. 175-200Kapitel i bok, del av antologi (Övrig (populärvetenskap, debatt, mm))
  • 9. Edebol Eeg-Olofsson, K
    et al.
    O, Eeg-Olofsson
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Methods in Clinical Neurophysiology and Neuropaediatric Aspects.2006Ingår i: In: Paediatric Clinical Neurophysiology, K Edebol Eeg-Olofsson, ed. Mac Keith Press, London, 2006, s. 1-8Kapitel i bok, del av antologi (Övrig (populärvetenskap, debatt, mm))
  • 10.
    Eeg-Olofsson, O
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Affektanfall, Epilepsi, Feberkramper.: Ditt barn hälsa, utveckling, sjukdomar, olycksfall2004Ingår i: Bonniers barnläkarbok., 2004, s. 313-21Kapitel i bok, del av antologi (Övrigt vetenskapligt)
  • 11.
    Eeg-Olofsson, O
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Epilepsi2004Ingår i: Omsorgsboken, Liber AB , 2004, s. 93-7Kapitel i bok, del av antologi (Refereegranskat)
  • 12.
    Eeg-Olofsson, O
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Epilepsi och ärftlighet.2004Ingår i: Svenska Epilepsia, Vol. 34, s. 12-3Artikel i tidskrift (Refereegranskat)
  • 13.
    Eeg-Olofsson, O
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Inflamatory disorders of the nervous system. Pathogenesis, Immunology, and clinical management.: Book review2007Övrigt (Övrig (populärvetenskap, debatt, mm))
  • 14.
    Eeg-Olofsson, O
    et al.
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Edebol Eeg-Olofsson, K
    The Electroencephalogram in Normal Neonates and Children.2006Ingår i: In: Paediatric Clinical Neurophysilogy, K Edebol Eeg-Olofsson, ed. Mac Keith Press, London, 2006, s. 150-74Kapitel i bok, del av antologi (Övrig (populärvetenskap, debatt, mm))
  • 15.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    10-Year Outcome of Childhood Epilepsy in Well-Functioning Children and Adolescents - Social and Psychological Factors2014Ingår i: Epilepsia, ISSN 0013-9580, E-ISSN 1528-1167, Vol. 55, s. 239-239Artikel i tidskrift (Övrigt vetenskapligt)
  • 16.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Attention-Deficit Hyperactivity Disorder in Children With Benign Epilepsy and Their Siblings2011Ingår i: Pediatric Neurology, ISSN 0887-8994, E-ISSN 1873-5150, Vol. 45, nr 3, s. 211-211Artikel i tidskrift (Refereegranskat)
  • 17.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Prevalence of epileptiform discharges in healthy children2010Ingår i: Epilepsia, ISSN 0013-9580, E-ISSN 1528-1167, Vol. 51, nr 11, s. 2357-2357Artikel i tidskrift (Refereegranskat)
  • 18.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Rolandic Epilepsy2010Ingår i: Pediatric Neurology, ISSN 0887-8994, E-ISSN 1873-5150, Vol. 42, nr 3, s. 237-237Artikel i tidskrift (Refereegranskat)
  • 19.
    Eeg-Olofsson, Orvar
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Larsson, Pal G.
    The way out of Babel2013Ingår i: Epilepsia, ISSN 0013-9580, E-ISSN 1528-1167, Vol. 54, nr 4, s. 767-768Artikel i tidskrift (Övrigt vetenskapligt)
  • 20. Everett, Kate
    et al.
    Chioza, Barry
    Aicardi, Jean
    Aschauer, Harald
    Brouwer, Oebele
    Callenbach, Petra
    Covanis, Athanasios
    Dooley, Joseph
    Dulac, Olivier
    Durner, Martina
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Feucht, Martha
    Friis, Mogens
    Guerrini, Renzo
    Heils, Armin
    Kjeldsen, Marianne
    Nabbout, Rima
    Sander, Thomas
    Wirrell, Elaine
    McKeigue, Paul
    Robinson, Robert
    Taske, Nichole
    Gardiner, Mark
    Linkage and mutational analysis of CLCN2 in childhood absence epilepsy2007Ingår i: Epilepsy Research, ISSN 0920-1211, E-ISSN 1872-6844, Vol. 75, nr 2-3, s. 145-153Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    In order to assess the chloride channel gene CLCN2 as a candidate susceptibility gene for childhood absence epilepsy, parametric and non-parametric linkage analysis was performed in 65 nuclear pedigrees. This provided suggestive evidence for linkage with heterogeneity: NPL score=2.3, p<0.009; HLOD=1.5, α=0.44. Mutational analysis of the entire genomic sequence of CLCN2 was performed in 24 unrelated patients from pedigrees consistent with linkage, identifying 45 sequence variants including the known non-synonymous polymorphism rs2228292 (G2154C, Glu718Asp) and a novel variant IVS4+12G>A. Intra-familial association analysis using the pedigrees and a further 308 parent–child trios showed suggestive evidence for transmission disequilibrium of the G2154C minor allele: AVE-PDT , p<0.03. Case–control analysis provided evidence for a protective effect of the IVS4+12G>A minor allele: , p<0.008. The 65 nuclear pedigrees were screened for three previously identified mutations shown to segregate with a variety of idiopathic generalised epilepsy phenotypes (597insG, IVS2-14del11 and G2144A) but none were found. We conclude that CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy.

  • 21. Everett, Kate V.
    et al.
    Chioza, Barry
    Aicardi, Jean
    Aschauer, Harald
    Brouwer, Oebele
    Callenbach, Petra
    Covanis, Athanasios
    Dulac, Olivier
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Feucht, Martha
    Friis, Mogens
    Goutieres, Françoise
    Guerrini, Renzo
    Heils, Armin
    Kjeldsen, Marianne
    Lehesjoki, Anna-Elina
    Makoff, Andrew
    Nabbout, Rima
    Olsson, Ingrid
    Sander, Thomas
    Sirén, Auli
    McKeigue, Paul
    Robinson, Robert
    Taske, Nichole
    Rees, Michele
    Gardiner, Mark
    Linkage and association analysis of CACNG3 in childhood absence epilepsy2007Ingår i: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 15, nr 4, s. 463-472Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD = 3.54, alpha = 0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P < 0.002). Re-sequencing of the coding exons in 59 patients did not identify any putative causal variants. A linkage disequilibrium (LD) map of CACNG3 was constructed using 23 single nucleotide polymorphisms (SNPs). Transmission disequilibrium was sought using individual SNPs and SNP-based haplotypes with the pedigree disequilibrium test in 217 CAE trios and the 65 nuclear pedigrees. Evidence for transmission disequilibrium (P < or = 0.01) was found for SNPs within a approximately 35 kb region of high LD encompassing the 5'UTR, exon 1 and part of intron 1 of CACNG3. Re-sequencing of this interval was undertaken in 24 affected individuals. Seventy-two variants were identified: 45 upstream; two 5'UTR; and 25 intronic SNPs. No coding sequence variants were identified, although four variants are predicted to affect exonic splicing. This evidence supports CACNG3 as a susceptibility locus in a subset of CAE patients.

  • 22. Fertleman, C. R.
    et al.
    Ferrie, C. D.
    Aicardi, J.
    Bednarek, N. A. F.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Elmslie, F. V.
    Griesemer, D. A.
    Goutières, F.
    Kirkpatrick, M.
    Malmros, I. N. O.
    Pollitzer, M.
    Rossiter, M.
    Roulet-Perez, E.
    Schubert, R.
    Smith, V. V.
    Testard, H.
    Wong, V.
    Stephenson, J. B. P.
    Paroxysmal extreme pain disorder (previously familial rectal pain syndrome)2007Ingår i: Neurology, ISSN 0028-3878, E-ISSN 1526-632X, Vol. 69, nr 6, s. 586-595Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    OBJECTIVE: To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A. METHODS: An international consortium of clinicians, scientists, and affected families was formed. Clinical details of all accessible families worldwide were collected, including age at onset, features of attacks, problems between attacks, investigational results, treatments tried, and evolution over time. A validated pain questionnaire was completed by 14 affected individuals. RESULTS: Seventy-seven individuals from 15 families were identified. The onset of the disorder is in the neonatal period or infancy and persists throughout life. Autonomic manifestations predominate initially, with skin flushing in all and harlequin color change and tonic attacks in most. Dramatic syncopes with bradycardia and sometimes asystole are common. Later, the disorder is characterized by attacks of excruciating deep burning pain often in the rectal, ocular, or jaw areas, but also diffuse. Attacks are triggered by factors such as defecation, cold wind, eating, and emotion. Carbamazepine is effective in almost all who try it, but the response is often incomplete. CONCLUSIONS: Paroxysmal extreme pain disorder is a highly distinctive sodium channelopathy with incompletely carbamazepine-sensitive bouts of pain and sympathetic nervous system dysfunction. It is most likely to be misdiagnosed as epilepsy and, particularly in infancy, as hyperekplexia and reflex anoxic seizures.

  • 23. Freeman, JL
    et al.
    Eeg-Olofsson, O
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Gelastic seizures.: In: Epilepsi: A comprehensive2007Ingår i: // In: Epilepsi: A comprehensive, Textbook, Second edition, Lippincott Williams & Wilkins, Philadelphia: // In: Epilepsi: A comprensive, 2007, s. 619-23Kapitel i bok, del av antologi (Övrig (populärvetenskap, debatt, mm))
  • 24. Gjerstad, L
    et al.
    Loyning, Y
    Eeg-Olofsson, O
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Eriksson, A-S
    Tauboll, E
    Epilepsi I:: Neurologi og Neurokirurgi. Fra barn til voksen2007Ingår i: Epilepsi I: Neurologi og Neurokirurgi. Fra barn til voksen, Eds: L Gjerstad, O Hunsbeth Skjeldal, E Helseth , 2007, s. 337-58Kapitel i bok, del av antologi (Övrig (populärvetenskap, debatt, mm))
  • 25. Harvey, AS
    et al.
    Eeg-Olofsson, O
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Freeman, JL
    Hypothalamic hamartoma and gelastic seizures.2007Ingår i: In: Epilepsy: A comprehensive Textbook. Second edition, Lippincott Willians & Wilkins, Philadelphia, 2007Kapitel i bok, del av antologi (Övrig (populärvetenskap, debatt, mm))
  • 26.
    Jonsson, Pysse
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    10-year outcome of childhood epilepsy in well-functioning children and adolescents2011Ingår i: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 15, nr 4, s. 331-337Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    BACKGROUND

    A population based study of epilepsy in children from a Swedish county including all children aged 1 month to 16 years was reported in 2006.

    AIM

    To describe the medical outcome, seizure types, epilepsy syndromes, treatment, individual and family history in children from this study who were well-functioning in January 1997 and the outcome after 10 years.

    METHODS

    Forty-five individuals, 11-21 years, 19 females, and their parents responded to a questionnaire and the hospital records were reviewed.

    RESULTS

    At the end of the 10-year period 75.6% of the patients were in remission. Focal seizures and focal seizures with secondary generalization were found in 57.8%. Rolandic epilepsy had been diagnosed in 33.3%, other idiopathic focal epilepsies in 11.0%, cryptogenic and symptomatic focal epilepsies in 22.2%, childhood absence epilepsy in 8.9%, juvenile absence epilepsy and Jeavons syndrome in each 2.2%, West syndrome in 4.4%, and other "generalized" epilepsies in 15.5%. The patients had a history of simple febrile seizures in 15.6% and of primary headache in 24.4%. Monotherapy with antiepileptic drugs was used by 64.4%, and valproate was the most common first drug of choice. A family history of epilepsy was found in 44.4%, febrile seizures in 17.7%, and primary headache in 57.8%. A coincidence of focal and generalized epilepsy phenotypes was found in some families.

    CONCLUSIONS

    Longitudinal studies are of importance in epilepsy epidemiology. Our results reflect the selection of only well-functioning individuals with epilepsy from the population based original study.

  • 27.
    Jonsson, Pysse
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Jonsson, Björn
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Psychological and social outcome of epilepsy in well-functioning children and adolescents. A 10-year follow-up study2014Ingår i: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 18, nr 3, s. 381-390Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background: From a population based study of epilepsy in Swedish children a subgroup designated well-functioning with an epilepsy diagnosis in 1997 was worked up from a medical point of view 10 years later. Aim: To describe the psychological and social outcome in this subgroup. Methods: Thirty-one patients aged 11-22 years and their parents/partners responded to a questionnaire according to Achenbach System of Empirically Based Assessment (ASEBA) to evaluate behavioural and emotional problems, and social competence. Results: Active epilepsy, diagnosed in 32%, was related to attention problems, somatic complaints, and school problems. Polytherapy, used in 16%, was related to attention problems and aggressive behaviour. School problems were found in six of seven children younger than 18 years. Internalizing, externalizing, and 'other' syndromes were found in 29% of the individuals, but a grouping of these syndromes in the clinical range only in two (6.5%), a girl with generalized tonic clonic seizures alone, and a boy with structural focal epilepsy. Both had active epilepsy and were treated with polytherapy. All ten individuals with Rolandic epilepsy were classified as normal. The answers to the ASEBA questionnaire of individuals and parents/partners were inconsistent, and parents generally stated more problems than the individuals. Summary.: This 10-year follow-up study of psychological and social outcome in well-functioning children and adolescents with childhood onset epilepsy shows some emotional, behavioural, and social problems. Thus, early information to increase knowledge about epilepsy and associated psychological co-morbidities in order to decrease risk of low self-esteem, social anxiety, and depression later in life is of importance.

  • 28.
    Larsson, Bo
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för folkhälso- och vårdvetenskap.
    Dahlöf, Carl
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Fichtel, Åsa
    Laurell, Katarina
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Återkommande huvudvärk hos barn och tonåringar2007Ingår i: Läkartidningen, ISSN 0023-7205, nr 23, s. 1802-1805Artikel i tidskrift (Refereegranskat)
    Abstract [sv]

    Återkommande huvudvärk är ett av de vanligaste hälsoproblemen bland skolbarn och rapporteras av cirka en fjärdedel. Den är särskilt vanlig bland flickor i tonåren. Vanligast är huvudvärk av spänningstyp och/eller migrän.

    Hos skolbarn medför återkommande huvudvärk sänkt livskvalitet, högre grad av emotionella och sociala problem samt andra somatiska symtom. Prognosen för sådan huvudvärk är också osäker.

    Det är av stor vikt att lärare och skolsköterskor/läkare tidigt uppmärksammar återkommande huvudvärk hos barn och ungdom så att den blir diagnostiserad och behandlad i enlighet med bästa tillgängliga kunskap. Ett sådant omhändertagande omfattar både aktiv psykologisk och farmakologisk behandling, vilket påtagligt kan minska besvären och deras psykosociala konsekvenser.

  • 29.
    Larsson, Katrin
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    A population based study of epilepsy in children from a Swedish county2006Ingår i: European journal of paediatric neurology, ISSN 1090-3798, E-ISSN 1532-2130, Vol. 10, nr 3, s. 107-113Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Background: Epidemiological studies of childhood epilepsy are of importance to compare incidence and prevalence rates, age distribution, inheritance, seizure types, epilepsy syndromes and treatment strategies.

    Aim: To perform an epidemiological study on children with epilepsy in a Swedish county using current ILAE classifications and a recent proposal.

    Methods: A population-based study was performed using the hospital data register to select children aged 1 month to 16 years with the diagnosis 'convulsions' or 'epilepsy' recognized between January 1996 and December 2000. Only patients with active epilepsy were included.

    Results: Two hundred and five children met the study criteria on the prevalence day 31st December, 2000. The total prevalence rate was 3.4/1000 with a peak prevalence in the age group 8-11 years. The incidence year 2000 was 40/100,000. Additional neuroimpairments were registered in 47.3%. A majority of the patients, 54.0%, had focal or focal plus secondarily generalized seizures. A named syndrome could be diagnosed in 49.4%. The most common. syndrome was rolandic epilepsy occurring in 17.0%. Childhood absence epilepsy occurred in 5.9%. Different disorders associated with epilepsy were found in 31.7%. The most common associated phenomenon was malformation of cortical development. Antiepileptic drug treatment was used in 81.0%, the most common first choice being valproate.

    Conclusions: The prevalence and incidence rates in this strictly delineated study are lower than those found in other epidemiological studies. Together with many divergences between reported studies concerning frequencies of different items, the results apparently depend on design, e.g. differences in age groups included, inclusion criteria used, and general methodology.

  • 30. Larsson, Pål G.
    et al.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Lantz, Göran
    Alpha Frequency Estimation in Patients With Epilepsy2012Ingår i: Clinical EEG and Neuroscience, ISSN 1550-0594, E-ISSN 2169-5202, Vol. 43, nr 2, s. 97-104Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    We report comparison and assessment of the clinical utility of different automated methods for the estimation of the alpha frequency in electroencephalograph (EEG) and compare them with visual evaluation. A total of 56 consecutive patients, aged 17 to 78 years, who had a routine EEG recording, were included, and they were grouped as patients with epilepsy (Ep) and without epilepsy (nEp). Five different methods were used for alpha frequency estimation: visually guided manual counting and visually guided Fourier transform, and 3 methods were fully automated: time domain estimation of alpha (automatic assessment of alpha waves in time domain [ATD]) and 2 fast Fourier transform (FFT)-based methods, a segmented (automatic assessment of EEG segments by FFT) and one full FFT (automatic assessment of whole EEG by one FFT of the full recording [AWF]). The AWF discriminated significantly between Ep and nEp. Visually guided manual counting showed an almost significant difference independently in the 2 occipital electrodes. The ATD underestimated high frequencies and returned a too low mean frequency. This study shows that AWF is the best suited method for automatic assessment of the alpha frequency.

  • 31.
    Larsson, Pål G.
    et al.
    Department of Neurosurgery, Oslo University Hospital, Norway.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Michel, Christoph M.
    Department of Neurology, University Hospital, Geneva, Switzerland.
    Seeck, Margitta
    Neurology Clinic, University Hospital, Geneva, Switzerland.
    Lantz, Goeran
    Department of Neurology, University Hospital, Geneva, Switzerland.
    Decrease in Propagation of Interictal Epileptiform Activity After Introduction of Levetiracetam Visualized with Electric Source Imaging2010Ingår i: Brain Topography, ISSN 0896-0267, E-ISSN 1573-6792, Vol. 23, nr 3, s. 269-278Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Different neuroimaging techniques (fMRI, spectroscopy, PET) are being used to evaluate candidate drugs in pharmacological development. In patients with epilepsy fast propagation of the epileptiform activity between different brain areas occurs. Electric Source Imaging (ESI), in contrast to the aforementioned techniques, has a millisecond time resolution, allowing visualization of this fast propagation. The purpose of the current project was to use ESI to investigate whether introduction of an antiepileptic drug (levetiracetam, LEV) would change the propagation patterns of the interictal epileptiform activity. Thirty patients with epilepsy were subject to an EEG recording before (pre-LEV) and after (in-LEV) introduction of LEV. Interictal spikes with similar topographic distribution were averaged within each subject, and a distributed source model was used to localize the EEG sources of the epileptiform activity. The temporal development of the activity within 20 regions of interest (ROIs) was determined, and source propagation between different regions was compared between the pre-LEV and in-LEV recordings. Patients with epileptic seizures showed propagation in 22/24 identified spike types in the pre-LEV recordings. In the in-LEV recordings only 7/15 spike types showed propagation, and six of these seven propagating spikes were recorded in patients with poor effect of treatment. Also in patients without seizures LEV tended to suppress propagation. We conclude that the observed suppression of source propagation can be considered as an indicator of effective antiepileptic treatment. ESI might thus become a useful tool in the early clinical evaluation of new candidate drugs in pharmacological development.

  • 32.
    Larsson, Pål G.
    et al.
    Department of Neurosurgery, Oslo University Hospital, Oslo, Norway.
    Evsiukova, Tatiana
    National Centre for Epilepsy, Oslo University Hospital, Oslo, Norway.
    Brockmeier, Frans
    National Centre for Epilepsy, Oslo University Hospital, Oslo, Norway.
    Ramm-Pettersen, Anette
    National Centre for Epilepsy, Oslo University Hospital, Oslo, Norway.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa, Pediatrik.
    Do sleep-deprived EEG recordings reflect spike index as found in full-night EEG recordings?2010Ingår i: Epilepsy & Behavior, ISSN 1525-5050, E-ISSN 1525-5069, Vol. 19, nr 3, s. 348-351Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    The sleep EEGs of many children with neurodevelopmental disorders reveal epileptiform activity. The aim of this study was to compare spike index (SI) in full-night recordings with SI in sleep-deprived EEGs in the morning; EEGs were obtained over 24 hours using ambulatory equipment. Sixteen children between the ages of 7 and 12 years were included in the study. They had to wake up at 3:00 AM and go to sleep again at 7:30 AM. Epileptiform activity was quantified, and SIs of full-night and morning recordings were compared. Two patients did not fall asleep. In one recording there was a technical problem that made calculations impossible. SIs calculated from EEGs obtained during a short nap in the morning were comparable to those calculated from full-night recordings. There seems to be a higher failure rate during morning recordings because of patients not falling asleep.

  • 33.
    Laurell, Katarina
    et al.
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Larsson, B
    Eeg-Olofsson, O
    Institutionen för kvinnors och barns hälsa.
    Headache in schoolchildren: agreement between different sources of information2003Ingår i: Cephalalgia, Vol. 23, s. 420-Artikel i tidskrift (Refereegranskat)
  • 34.
    Laurell, Katarina
    et al.
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap. neurologi.
    Larsson, Bo
    Eeg-Olofsson, Orvar
    Institutionen för kvinnors och barns hälsa.
    Headache in schoolchildren: Association with other pain, family history and psychosocial factors2005Ingår i: Pain, Vol. 119, s. 150-158Artikel i tidskrift (Refereegranskat)
  • 35.
    Laurell, Katarina
    et al.
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Larsson, Bo
    Mattsson, Peter
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för neurovetenskap.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    A 3-year follow-up of headache diagnoses and symptoms in Swedish schoolchildren2006Ingår i: Cephalalgia, ISSN 0333-1024, E-ISSN 1468-2982, Vol. 26, nr 7, s. 809-815Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Information is sparse concerning the incidence and prognosis of headache in children from the general population, especially of tension-type headache. In this study, headache diagnoses and symptoms were reassessed in 122 out of 130 schoolchildren after 3 years. Nearly 80% of those with headache at first evaluation still reported headache at follow-up. Although the likelihood of experiencing the same headache diagnosis and symptoms was high, about one-fifth of children with tension-type headache developed migraine and vice versa. Female gender predicted migraine and frequent headache episodes predicted overall headache at follow-up. The estimated average annual incidence was 81 and 65 per 1000 children, for tension-type headache and migraine, respectively. We conclude that there is a considerable risk of developing and maintaining headache during childhood. Headache diagnoses should be reassessed regularly and treatment adjusted. Girls and children with frequent headache have a poorer prognosis and therefore intervention is particularly important in these groups.

  • 36.
    Lindgren, Åsa
    et al.
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Samhällsvetenskapliga fakulteten, Institutionen för psykologi.
    Kihlgren, Margareta
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Samhällsvetenskapliga fakulteten, Institutionen för psykologi.
    Melin, Lennart
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Samhällsvetenskapliga fakulteten, Institutionen för psykologi.
    Croona, Cecilia
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Samhällsvetenskapliga fakulteten, Institutionen för psykologi.
    Lundberg, Staffan
    Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Eeg-Olofsson, Orvar
    Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Development of cognitive functions in children with rolandic epilepsy2004Ingår i: Epilepsy & Behavior, Vol. 5, s. 903-910Artikel i tidskrift (Refereegranskat)
  • 37.
    Lourenço Dos Santos, Sofia
    et al.
    Sorbonne Universités, UPMC Univ Paris 06, UMR 8256, Biological Adaptation and Ageing-IBPS, Paris, France.
    Baraibar, Martin A
    Sorbonne Universités, UPMC Univ Paris 06, UMR 8256, Biological Adaptation and Ageing-IBPS, Paris, France.
    Lundberg, Staffan
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Larsson, Lars
    Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden.
    Friguet, Bertrand
    Sorbonne Universités, UPMC Univ Paris 06, UMR 8256, Biological Adaptation and Ageing-IBPS, Paris, France.
    Oxidative proteome alterations during skeletal muscle ageing2015Ingår i: Redox Biology, ISSN 0090-7324, E-ISSN 2213-2317, Vol. 5, s. 267-274Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    Sarcopenia corresponds to the degenerative loss of skeletal muscle mass, quality, and strength associated with ageing and leads to a progressive impairment of mobility and quality of life. However, the cellular and molecular mechanisms involved in this process are not completely understood. A hallmark of cellular and tissular ageing is the accumulation of oxidatively modified (carbonylated) proteins, leading to a decreased quality of the cellular proteome that could directly impact on normal cellular functions. Although increased oxidative stress has been reported during skeletal muscle ageing, the oxidized protein targets, also referred as to the 'oxi-proteome' or 'carbonylome', have not been characterized yet. To better understand the mechanisms by which these damaged proteins build up and potentially affect muscle function, proteins targeted by these modifications have been identified in human rectus abdominis muscle obtained from young and old healthy donors using a bi-dimensional gel electrophoresis-based proteomic approach coupled with immunodetection of carbonylated proteins. Among evidenced protein spots, 17 were found as increased carbonylated in biopsies from old donors comparing to young counterparts. These proteins are involved in key cellular functions such as cellular morphology and transport, muscle contraction and energy metabolism. Importantly, impairment of these pathways has been described in skeletal muscle during ageing. Functional decline of these proteins due to irreversible oxidation may therefore impact directly on the above-mentioned pathways, hence contributing to the generation of the sarcopenic phenotype.

  • 38.
    Lundberg, S
    et al.
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Frylmark, A
    Eeg-Olofsson, O
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Children with rolandic epilepsy have abnormalities of oromotor and dichotic listening performance2005Ingår i: Developmental Medicine & Child Neurology, Vol. 47, s. 603-608Artikel i tidskrift (Refereegranskat)
  • 39.
    Mefford, Heather C
    et al.
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA.
    Yendle, Simone C
    Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia.
    Hsu, Cynthia
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA.
    Cook, Joseph
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA.
    Geraghty, Eileen
    Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA.
    McMahon, Jacinta M
    Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska och farmaceutiska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Sadleir, Lynette G
    Departments of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand.
    Gill, Deepak
    T.Y. Nelson Department of Neurology, the Children's Hospital at Westmead, University of Sydney, Westmead, Australia.
    Ben-Zeev, Bruria
    Pediatric Neurology Unit, Edmond and Lilly Safra Pediatric Hospital, Sheba Med Center, Tel Aviv University, Tel-Aviv, Israel.
    Lerman-Sagie, Tally
    Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.
    Mackay, Mark
    Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Australia.
    Freeman, Jeremy L
    Department of Neurology, Royal Children's Hospital, Australia.
    Andermann, Eva
    Departments of Neurology and Neurosurgery and Human Genetics, McGill University, Montreal Quebec, Canada.
    Pelakanos, James T
    Department of Paediatric Neurology, Royal Children's Hospital, Brisbane, Australia.
    Andrews, Ian
    Department of Neurology, Sydney Children's Hospital, Sydney, Australia.
    Wallace, Geoffrey
    Department of Paediatric Neurology, Mater Medical Centre and Royal Children's Hospital, South Brisbane, Australia.
    Eichler, Evan E
    Department of Genome Sciences, University of Washington, Seattle, WA.
    Berkovic, Samuel F
    Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia.
    Scheffer, Ingrid E
    Epilepsy Research Center and Department of Medicine, University of Melbourne, Austin Health, Australia.
    Rare copy number variants are an important cause of epileptic encephalopathies2011Ingår i: Annals of Neurology, ISSN 0364-5134, E-ISSN 1531-8249, Vol. 70, nr 6, s. 974-985Artikel i tidskrift (Refereegranskat)
    Abstract [en]

    OBJECTIVE:

    Rare copy number variants (CNVs)-deletions and duplications-have recently been established as important risk factors for both generalized and focal epilepsies. A systematic assessment of the role of CNVs in epileptic encephalopathies, the most devastating and often etiologically obscure group of epilepsies, has not been performed.

    METHODS:

    We evaluated 315 patients with epileptic encephalopathies characterized by epilepsy and progressive cognitive impairment for rare CNVs using a high-density, exon-focused, whole-genome oligonucleotide array.

    RESULTS:

    We found that 25 of 315 (7.9%) of our patients carried rare CNVs that may contribute to their phenotype, with at least one-half being clearly or likely pathogenic. We identified 2 patients with overlapping deletions at 7q21 and 2 patients with identical duplications of 16p11.2. In our cohort, large deletions were enriched in affected individuals compared to controls, and 4 patients harbored 2 rare CNVs. We screened 2 novel candidate genes found within the rare CNVs in our cohort but found no mutations in our patients with epileptic encephalopathies. We highlight several additional novel candidate genes located in CNV regions.

    INTERPRETATION:

    Our data highlight the significance of rare CNVs in the epileptic encephalopathies, and we suggest that CNV analysis should be considered in the genetic evaluation of these patients. Our findings also highlight novel candidate genes for further study.

  • 40. Panayiotopoulos, C P
    et al.
    Benbadis, S R
    Covanis, A
    Dulac, O
    Duncan, J S
    Eeg-Olofsson, O
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Ferrie, C D
    Grunewald, R A
    Kasteleijn-Nolst Trenite, D G A
    Koutroumanidis, M
    Martinovic, Z
    Newton, R W
    Parker, A P J
    Salas-Puig, J
    Sander, J W
    Shorvon, S
    Watanabe, K
    Whitehouse, W P
    Youroukos, S
    Efficacy and tolerability of the new antiepileptic drugs I: treatment of new onset epilepsy: report of the Therapeutics and Technology Assessment Subcommittee and Quality Standards Subcommittee of the American Academy of Neurology and the American Epilepsy Society.2005Rapport (Övrig (populärvetenskap, debatt, mm))
  • 41. Panayiotopoulos, Chrystostomos P
    et al.
    Benbadis, Selim R
    Covanis, Anthanasios
    Dulac, Olivier
    Duncan, John S
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Ferrie, Colin D
    Grunewald, Richard A
    Kasteleijn-Nolst Trenite, Dorothee G A
    Koutroumanidis, Michael
    Martinovic, Zarko
    Newton, Richard W
    Parker, Alasdair P
    Salas-Puig, Janvier
    Sander, J W A S
    Shorvon, Simon
    Watanabe, Kazuyoshi
    Whitehouse, William P
    Youroukos, Sotirios
    Efficacy and tolerability of the new antiepileptic drugs: commentary on the recently published practice parameters.2004Övrigt (Övrig (populärvetenskap, debatt, mm))
  • 42. Stefan, H
    et al.
    Sneed III, C
    Eeg-Olofsson, O
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Typical and atypical absence seizures, myoclonic absences, and eyelid myoclonia.2007Ingår i: In: Epilepsy: A comprehensive Textbook. Second edition, Lippincott Willians & Wilkins, Philadelphia, 2007, s. 573-84Kapitel i bok, del av antologi (Övrig (populärvetenskap, debatt, mm))
  • 43.
    Wicksell, Rikard K
    et al.
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Samhällsvetenskapliga fakulteten, Institutionen för psykologi.
    Kihlgren, Margareta
    Melin, Lennart
    Uppsala universitet, Humanistisk-samhällsvetenskapliga vetenskapsområdet, Samhällsvetenskapliga fakulteten, Institutionen för psykologi.
    Eeg-Olofsson, Orvar
    Uppsala universitet, Medicinska vetenskapsområdet, Medicinska fakulteten, Institutionen för kvinnors och barns hälsa.
    Specific cognitive deficits are common in children with Duchenne muscular dystrophy2004Ingår i: Developmental Medicine & Child Neurology, ISSN 0012-1622, E-ISSN 1469-8749, Vol. 46, s. 154-159Artikel i tidskrift (Refereegranskat)
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