Non-dravet syndrome epilepsy in 4 polish patients with SCN1A de novo mutations

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Background: The spectrum of neurological disorders associated with mutations in SCN1A, which encodes the type 1 subunit of the neuronal voltage-gated sodium channel, is broad and can manifest as both epileptic (a heterogeneous group of epileptic syndromes) and non-epileptic conditions. Dravet syndrome (DRVT) and Genetic Epilepsy with Febrile Seizures plus (GEFS+) are the most frequent. However, there exist less common phenotypes with varying severity of clinical course that authors would like to highlight.