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

标题
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures
作者
关键词
Sodium Valproate, Cerebellar Atrophy, Consanguineous Family, Homozygous Variant, Paroxysmal Dyskinesia
出版物
HUMAN GENETICS
Volume 135, Issue 11, Pages 1295-1298
出版商
Springer Nature
发表日期
2016-08-27
DOI
10.1007/s00439-016-1726-y

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