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Article

Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation.

Brain & development - 1 May 2018

Kim Hyuna, Lee Sangmoon, Choi Murim, Kim Hunmin, Hwang Hee, Choi JiEun, Chae Jong Hee, Kim Ki Joong, Lim Byung Chan

Abstract excerpt

PURPOSE: A recurrent de novo mutation in KCNC1 (c.959G > A, p.Arg320His) has been identified recently as one of the important genetic causes of progress myoclonic epilepsy (PME). The clinical phenotype resulting from this mutation has been named as myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK). This finding carries important clinical implications in that autosomal dominant inheritance and...

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Identifiers

PMID: 29428275
DOI: 10.1016/j.braindev.2018.01.006

Genes

KCNC1

Variants

Provenance

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