Expanding spectrum of SCN1A-related phenotype with novel mutations

Mutations in the genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes, with most of the mutations occurring in SCN1A gene. It is one of the most well-researched epilepsy genes. The SCN1A gene, which seems to be a relevant regulator of excitability of the CNS, is...

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Bibliographic Details
Main Authors: Semra Hız-Kurul, Semra Gürsoy, Müge Ayanoğlu, Uluç Yiş, Derya Erçal
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2017-10-01
Series:The Turkish Journal of Pediatrics
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Online Access:https://turkjpediatr.org/article/view/1032
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