Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.

Abstract excerpt

Mutations in SCN2A cause epilepsy syndromes of variable severity including neonatal-infantile seizures. In one case, we previously described additional childhood-onset episodic ataxia. Here, we corroborate and detail the latter phenotype in three further cases. We describe the clinical characteristics, identify the causative SCN2A mutations and determine their functional consequences using whole-cell...

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