ISSN: ISSN: 2157-7412
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Elzbieta Szczepanik
Poland
Research Article
Can the p.Thr1174Ser Mutation in SCN1A Gene Shape Genetic Background in
Epileptic Encephalopathies?
Author(s): Dorota Hoffman Zacharskaa, Iwona Terczynska, Paulina Górka-Skoczylasa, Anna Winczewska Wiktor, Tomasz Mazurczak, Jolanta Góral, Agnieszka Charzewska, Kinga Duszyc and Elzbieta SzczepanikDorota Hoffman Zacharskaa, Iwona Terczynska, Paulina Górka-Skoczylasa, Anna Winczewska Wiktor, Tomasz Mazurczak, Jolanta Góral, Agnieszka Charzewska, Kinga Duszyc and Elzbieta Szczepanik
Dravet Syndrome (DS) and Genetic Epilepsy with Febrile Seizures plus (GEFS+) are very often caused by mutations in the SCNA1A gene. These mutations also have been identified in families with migraine phenotypes, supporting the link between migraine and epilepsy. The SCN1A substitution p.Trp1174Ser has been reported as a cause of familial migraine and familial mixed phenotypes with seizures / hemiplegic migraine. We present this mutation as a causative factor of familial GEFS+ syndrome, but also as a factor potentially changing the phenotypes of the epileptic encephalopathies caused by mutations in the SCN1A, ARX or PCDH19 genes. Substitution p.Trp1174Ser was identified in five probands clinically diagnosed as spectrum of GEFS+ or DS. As it has not been regarded as significant for the epileptic encephalopathy, they underwent additional testing according to the revised phenotypes. Probands.. View More»
DOI:
10.4172/2157-7412.1000290