uu.seUppsala University Publications
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Whole-gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Uppsala University, Science for Life Laboratory, SciLifeLab.
Show others and affiliations
2017 (English)In: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 91, no 1, 106-110 p.Article in journal (Refereed) Published
Abstract [en]

Duplications at 2q24.3 encompassing the voltage-gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the literature have presented in addition with different degrees of intellectual disability, and have involved neighbouring genes in addition to the sodium channel gene cluster. Here we report eight new cases with overlapping duplications at 2q24 ranging from 0.05 Mb to 7.63 Mb in size. Taken together with the previously reported cases, our study suggests that having an extra copy of SCN2A has an effect on epilepsy pathogenesis, causing benign familial infantile seizures which eventually disappear at the age of one to two years.. However, the number of copies of SCN2A does not appear to have an effect on cognitive outcome.

Place, publisher, year, edition, pages
2017. Vol. 91, no 1, 106-110 p.
Keyword [en]
2q24 duplication, benign familial neonatal-infantile seizures, neonatal epilepsy, SCN2A, voltage-gated sodium channel
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-302318DOI: 10.1111/cge.12797ISI: 000393979600014PubMedID: 27153334OAI: oai:DiVA.org:uu-302318DiVA: diva2:957073
Funder
Wellcome trust, HICF-1009-003 WT098051
Available from: 2016-08-31 Created: 2016-08-31 Last updated: 2017-04-12Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Thuresson, Ann-CharlotteZander, Cecilia Soussi
By organisation
Medicinsk genetik och genomikScience for Life Laboratory, SciLifeLab
In the same journal
Clinical Genetics
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar

Altmetric score

Total: 333 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf