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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Nat Genet 47:393-399 (2015)
DOI:10.1038/ng.3239

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Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

Clin Genet 87:e1-3 (2015)
DOI:10.1111/cge.12542