Epilepsie en het SCN1A-gen

Translated title of the contribution: Epilepsy and the SCN1A gene

N. Dekker, M. J.A. Van Kempen, D. Lindhout, O. Van Nieuwenhuizen, E. H. Brilstra

Research output: Contribution to journalArticleAcademicpeer-review


Mutations in the voltage-gated sodium channel subunit gene, SCN1A, are identified predominantly in patients with severe myoclonic epilepsy of infancy (SMEI) and in families with generalized epilepsy with febrile seizures plus (GEFS+). Patients with SMEI have predominantly truncating mutations or missense mutations in functionally important segments of the ion channel. In GEFS+ families predominantly missense mutations are found. The finding of a pathogenic SCN1A mutation may have consequences for the anti-epileptic treatment, helps to avoid further diagnostic procedures and provides information on the recurrence risk for siblings and other relatives.

Translated title of the contributionEpilepsy and the SCN1A gene
Original languageDutch
Pages (from-to)254-258
Number of pages5
JournalTijdschrift voor Kindergeneeskunde
Issue number5
Publication statusPublished - 1 Jan 2008


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