Article
Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.
Seizure - 1 Jan 2020
Till Ágnes, Zima Judith, Fekete Anett, Bene Judit, Czakó Márta, Szabó András, Melegh Béla, Hadzsiev Kinga
Abstract excerpt
PURPOSE: The vast majority of mutations responsible for epilepsy syndromes such as genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS) occur in the gene encoding the type 1 alpha subunit of neuronal voltage-gated sodium channel (SCN1A). METHODS: 63 individuals presenting with either DS or GEFS + syndrome phenotype were screened for SCN1A gene mutation using Sanger sequencing and multiplex...
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