Homozygous Loss of CHRNA7 on Chromosome 15q13.3 Causes Severe Encephalopathy With Seizures and Hypotonia

被引：43
作者：
Endris, Volker [2 ]
Hackmann, Karl [3 ]
Neuhann, Teresa M. [3 ]
Grasshoff, Ute [4 ]
Bonin, Michael [4 ]
Haug, Ulrich [5 ]
Hahn, Gabriele [6 ]
Schallner, Jens C. [7 ]
Schroeck, Evelin [3 ]
Tinschert, Sigrid [3 ]
Rappold, Gudrun [2 ]
Moog, Ute [1 ]
机构：
[1] Univ Heidelberg, Inst Human Genet, Dept Human Genet, D-69120 Heidelberg, Germany
[2] Univ Heidelberg, Inst Human Genet, Dept Human Mol Genet, D-69120 Heidelberg, Germany
[3] Tech Univ Dresden, Inst Clin Genet, Dresden, Germany
[4] Inst Human Genet, Tubingen, Germany
[5] Maulbronn, Ctr Child Neurol & Social Pediat Maulbronn, Maulbronn, Germany
[6] Tech Univ Dresden, Med Fac Carl Gustav Carus, Childrens Hosp, D-8027 Dresden, Germany
[7] Tech Univ Dresden, Med Fac Carl Gustav Carus, Dept Pediat Radiol, Inst Diagnost Radiol, D-8027 Dresden, Germany
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 11期
关键词：
IDIOPATHIC GENERALIZED EPILEPSY; MENTAL-RETARDATION; INCREASE RISK; MICRODELETIONS; SCHIZOPHRENIA; DISORDERS; AUTISM;
D O I：
10.1002/ajmg.a.33692
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：2908 / 2911
页数：4
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