Article
Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree.
Journal of human genetics - 1 Oct 2011
Mori Satsuki, Nakamura Masayuki, Yasuda Takeshi, Ueno Shu-Ichi, Kaneko Sunao, Sano Akira
Abstract excerpt
Benign adult familial myoclonic epilepsy (BAFME), alternatively named familial adult myoclonic epilepsy 1/familial cortical myoclonic tremor with epilepsy 1 (FAME1/FCMTE1), is a hereditary epileptic syndrome characterized by autosomal dominant inheritance, adult-onset tremulous hand movement, myoclonus, infrequent epileptic seizure and non-progressive course without cerebellar ataxia and dementia. We previously...
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