Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders

Epilepsy, known as seizure disorder, is one of the most common neurological condition with a prevalence of 12/1000 per year. It is diagnosed after a person has had at least two unprovoked or reflex seizures (or after one seizure with a high risk for more) [1]. The epileptic encephalopathy in children was re-defined as a condition where the epileptic activity itself contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone.

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