Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

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作者：
Kouhei Den
Yosuke Kudo
Mitsuhiro Kato
Kosuke Watanabe
Hiroshi Doi
Fumiaki Tanaka
Hirokazu Oguni
Satoko Miyatake
Takeshi Mizuguchi
Atsushi Takata
Noriko Miyake
Satomi Mitsuhashi
Naomichi Matsumoto
机构：
[1] Yokohama City University Graduate School of Medicine,Department of Human Genetics
[2] Department of Neurology,Department of Pediatrics
[3] Yokohama Brain and Spine Center,Department of Neurology and Stroke Medicine
[4] Showa University School of Medicine,Department of Pediatrics
[5] Yokohama City University Graduate School of Medicine,Clinical Genetics Department
[6] Tokyo Women’s Medical University,undefined
[7] Yokohama City University Hospital,undefined
来源：
BMC Neurology | / 19卷
关键词：
Whole-exome sequencing; Epilepsy;
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