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


Epilepsy, conventionally classified as idiopathic by etiology in up to 70 % of the cases, has started to reveal its genetic roots with the advent of widely available genetic testing [1]. The majority of the genes identified as disease causing mutation encode ion channels or receptors including voltage-gated sodium, potassium, calcium and chloride channels; additionally, receptors for acetylcholine and γ-amino butyric acid (GABA) [2]. The most widely investigated association is between SCN1A mutations (OMIM 182389) with Dravet syndrome (DS) (OMIM 607208) and the genetic epilepsy with febrile seizure plus syndrome (GEFS+) (OMIM 604403) [3–5].


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