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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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Опубликовано в: :Neuropsychiatr Dis Treat
Главные авторы: Lv, Yudan, Wang, Zan, Liu, Chang, Cui, Li
Формат: Artigo
Язык:Inglês
Опубликовано: Dove Medical Press 2017
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5656343/
https://ncbi.nlm.nih.gov/pubmed/29089769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/NDT.S145774
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