<i>SCN2A</i> mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

Abstract

These results can explain a neuronal hyperexcitability resulting in seizures and other episodic symptoms extending the spectrum of SCN2A-associated phenotypes. The developmentally increasing expression of Na(V)1.2 in cerebellum may be responsible for the later onset of episodic ataxia.