Articles with "efhc1 mutation" as a keyword



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EFHC1 mutation in Indian juvenile myoclonic epilepsy patient

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Published in 2017 at "Epilepsia Open"

DOI: 10.1002/epi4.12037

Abstract: 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,… read more here.

Keywords: jme; myoclonic epilepsy; efhc1 mutation; juvenile myoclonic ... See more keywords