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STXBP1 : the second synaptic vesicle release gene involved in epilepsy
Author(s) -
Kumar RA
Publication year - 2008
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2008.01084_1.x
Subject(s) - epilepsy , gene , biology , genetics , synaptic vesicle , mutation , neuroscience , vesicle , membrane
De novo mutations in the gene encoding STXBP1 (MUNC18‐1) cause early infantile epileptic encephalopathy
Saitsu et al. (2008)
Nature Genetics 40: 782–788