Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility

Human Molecular Genetics

Volumn 18, Issue 6, 2009, Pages 1099-1109

  Suzuki, Toshimitsu ^a   Miyamoto, Hiroyuki ^a   Nakahari, Takashi ^b   Inoue, Ikuyo ^a   Suemoto, Takahiro ^a   Jiang, Bin ^a   Hirota, Yuki ^c   Itohara, Shigeyoshi ^a   Saido, Takaomi C ^a   Tsumoto, Tadaharu ^a   Sawamoto, Kazunobu ^c   Hensch, Takao K ^a   Delgado Escueta, Antonio V ^d   Yamakawa, Kazuhiro ^a  

^a RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^b OSAKA MEDICAL COLLEGE   (Japan)

^c NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MYOCLONIN 1; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN VENTRICLE DILATATION; CONTROLLED STUDY; DEVELOPMENTAL STAGE; DISEASE PREDISPOSITION; EXPERIMENTAL MOUSE; FEMALE; FERTILITY; GENE FUNCTION; HETEROZYGOTE; MALE; MUTANT; MYOCLONUS SEIZURE; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFECT; SEIZURE SUSCEPTIBILITY;

ANIMALS; CALCIUM-BINDING PROTEINS; CEREBRAL VENTRICLES; CILIA; CONVULSANTS; DENTATE GYRUS; GAMMA-AMINOBUTYRIC ACID; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; MICE; MUTATION; MYOCLONUS; NEURAL CELL ADHESION MOLECULES; SEIZURES; SIALIC ACIDS;

MUS;

EID: 61849107443     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp006     Document Type: Article

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