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

BACKGROUND: Progressive myoclonic epilepsy (PME) is a heterogeneous neurodegenerative disorder, which is commonly manifested with refractory seizures and neurologic deterioration. The prognosis of PME is poor, so early diagnosis of PME is critical. The aim of our study is to identify the novel patho...

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Detalles Bibliográficos
Autores principales: Lv, Yudan, Wang, Zan, Liu, Chang, Cui, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2017
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656343/
https://www.ncbi.nlm.nih.gov/pubmed/29089769
http://dx.doi.org/10.2147/NDT.S145774

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656343/
https://www.ncbi.nlm.nih.gov/pubmed/29089769
http://dx.doi.org/10.2147/NDT.S145774

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