Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy

Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy

Yudan Lv, Zan Wang, Chang Liu, Li Cui Department of Neurology, Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, People’s Republic of China Background: Progressive myoclonic epilepsy (PME) is a heterogeneous neurodegenerative dis...

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Bibliographic Details
Main Authors: Lv YD, Wang Z, Liu C, Cui L
Format: Article
Language:English
Published: Dove Medical Press 2017-10-01
Series:Neuropsychiatric Disease and Treatment
Subjects:
CACNA1A
PME
exome sequencing
myoclonus
muscular hypotonia
Online Access:https://www.dovepress.com/identification-of-a-novel-cacna1a-mutation-in-a-chinese-family-with-au-peer-reviewed-article-NDT

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https://www.dovepress.com/identification-of-a-novel-cacna1a-mutation-in-a-chinese-family-with-au-peer-reviewed-article-NDT

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