EFHC1 mutation in Indian juvenile myoclonic epilepsy patient

OBJECTIVE: Juvenile myoclonic epilepsy (JME) is the most common form of idiopathic generalized epilepsies (IGEs) and is genetically heterogeneous. Mutations in EFHC1 cause JME. Because about 2 million people in India are affected by JME alone, we investigated the prevalence of mutations in the EFHC1...

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發表在:Epilepsia Open
Main Authors: Thounaojam, Romita, Langbang, Leader, Itisham, Kavish, Sobhani, Roohollah, Srivastava, Shivani, Ramanujam, Bhargavi, Verma, Ramesh, Tripathi, Manjari, Aguan, Kripamoy
格式: Artigo
語言:Inglês
出版: John Wiley and Sons Inc. 2017
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Full‐length Original Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5939392/
https://ncbi.nlm.nih.gov/pubmed/29750216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/epi4.12037
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