Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures

Published 2016 View Full Article

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Title
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures
Authors
Keywords
Sodium Valproate, Cerebellar Atrophy, Consanguineous Family, Homozygous Variant, Paroxysmal Dyskinesia
Journal
HUMAN GENETICS
Volume 135, Issue 11, Pages 1295-1298
Publisher
Springer Nature
Online
2016-08-27
DOI
10.1007/s00439-016-1726-y
References
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