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Article

A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family.

Epilepsy research - 1 Jul 2015

Tuncer Feyza N, Gormez Zeliha, Calik Mustafa, Altiokka Uzun Gunes, Sagiroglu Mahmut S, Yuceturk Betul, Yuksel Bayram, Baykan Betul, Bebek Nerses, Iscan Akin, Ugur Iseri Sibel A, Ozbek Ugur

Abstract excerpt

A consanguineous family from Turkey having two children with intellectual disability exhibiting myoclonic, febrile and other generalized seizures was recruited to identify the genetic origin of these phenotypes. A combined approach of SNP genotyping and exome sequencing was employed both to screen genes associated with Dravet syndrome and to detect homozygous variants. Analysis of exome data was extended further...

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Identifiers

PMID: 25986186
DOI: 10.1016/j.eplepsyres.2015.02.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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