Journal article

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

Yunxiang Liao, Liesbet Deprez, Snezana Maljevic, Julika Pitsch, Lieve Claes, Dimitrina Hristova, Albena Jordanova, Sirpa Ala-Mello, Astrid Bellan-Koch, Dragica Blazevic, Simone Schubert, Evan A Thomas, Steven Petrou, Albert J Becker, Peter De Jonghe, Holger Lerche

BRAIN | OXFORD UNIV PRESS | Published : 2010

Abstract

Many idiopathic epilepsy syndromes have a characteristic age dependence, the underlying molecular mechanisms of which are largely unknown. Here we propose a mechanism that can explain that epileptic spells in benign familial neonatal-infantile seizures occur almost exclusively during the first days to months of life. Benign familial neonatal-infantile seizures are caused by mutations in the gene SCN2A encoding the voltage-gated Na(+) channel Na(V)1.2. We identified two novel SCN2A mutations causing benign familial neonatal-infantile seizures and analysed the functional consequences of these mutations in a neonatal and an adult splice variant of the human Na(+) channel Na(V)1.2 expressed hete..

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Grants

Awarded by German Research Foundation (DFG)


Awarded by Federal Ministry for Education and Research


Awarded by European Union


Awarded by National Health and Medical Research Council of Australia


Funding Acknowledgements

German Research Foundation (DFG Le1030/10-1, /8-2; SFB TR3, project C6), the National Genome Network of the Federal Ministry for Education and Research (BMBF: NGFN2/01GS0478 and NGFNplus/01GS08123, 01GS08122), the European Union (Epicure: LSH 037315), the University of Ulm, the Fund for Scientific Research Flanders (FWO-F), Methusalem excellence grant of the Flemish Government and University of Antwerp, and the National Health and Medical Research Council of Australia program grant (NHMRC # 400121).