Genotype–phenotype correlations in Polish patients with SCN8A-related epilepsy: A multicentre observational study

Epileptic seizures arise from neuronal hyperexcitability, which leads to various clinical presentations depending on the topography of electrical activity [1]. The excitability of the neuronal membrane is maintained by a range of membrane proteins that control the physiological balance of ions between the intracellular space and extracellular matrix [2,3]. Voltage-gated sodium channels (VGSCs), which have been associated with multiple types of genetic epilepsy, are membrane proteins encoded by nine genes in the SCN group [4,5].

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