Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy

Ágnes Till, Judith Zima, Anett Fekete, Judit Bene, Márta Czakó, András Szabó, Béla Melegh, Kinga Hadzsiev

Research output: Contribution to journalArticle

Abstract

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 ligation-dependent probe amplification (MLPA). Results: Our research study identified 15 novel pathogen mutations in the SCN1A gene of which 12 appeared to be missense mutations with addition of two frameshift-deletions and one in-frame deletion. The distribution of clinical phenotypes in patients carrying SCN1A mutations was as follows: twelve patients had classical DS, three patients had GEFS + syndrome and two relatives of DS patients were suffering from febrile seizures. Conclusions: Our study highlights the phenotypic and genotypic heterogeneities of DS and GEFS + with the important aim of gaining a deeper understanding of SCN1A-related disorders. This study also represents the first genetic analysis of the SCN1A gene in a Hungarian cohort with the DS and GEFS + syndrome phenotype.

Original languageEnglish
Pages (from-to)8-13
Number of pages6
JournalSeizure
Volume74
DOIs
Publication statusPublished - Jan 2020

Keywords

  • Dravet syndrome
  • Epilepsy
  • GEFS+ syndrome
  • Novel mutation
  • SCN1A gene

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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