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STXBP1: the second synaptic vesicle release gene involved in epilepsy |
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| Authors: | RA Kumar |
| Affiliation: | Dobyns Laboratory, Department of Human Genetics, The University of Chicago, 920 E. 58th Street, Rm 319, Chicago, IL 60637, USA. e‐mail: rkumar1@bsd.uchicago.edu |
| Abstract: | De novo mutations in the gene encoding STXBP1 (MUNC18‐1) cause early infantile epileptic encephalopathy Saitsu et al. (2008) Nature Genetics 40: 782–788 |
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