Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development.

Mutations in SCN2A are associated with a heterogeneous clinical spectrum including epilepsy and autism. Here, we have identified a peculiar phenotype associated with vaccination related exacerbations of ataxia. We report the first family with three individuals affected by SCN2A-associated episodic ataxia (EA) with impaired speech development.


*Paper is not free access, requires a subscription

Neuropediatrics, 2018.
Becker, Kerstin, et al.