A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

Journal of Human Genetics

Volumn 59, Issue 10, 2014, Pages 581-583

  Saitsu, Hirotomo ^a   Tohyama, Jun ^b   Walsh, Tom ^c   Kato, Mitsuhiro ^d   Kobayashi, Yu ^b   Lee, Ming ^c   Tsurusaki, Yoshinori ^a   Miyake, Noriko ^a   Goto, Yu Ichi ^e   Nishino, Ichizo ^e   Ohtake, Akira ^f   King, Mary Claire ^c   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b NISHI NIIGATA CHUO NATIONAL HOSPITAL   (Japan)

^c UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^d YAMAGATA UNIVERSITY   (Japan)

^e NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^f SAITAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CLOBAZAM; CLONAZEPAM; CORTICOTROPIN; NITRAZEPAM; NUCLEAR RECEPTOR COREPRESSOR; PYRIDOXINE; TOPIRAMATE; TRANSDUCIN BETA LIKE 1 X LINKED RECEPTOR 1 PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID; CELL RECEPTOR; NUCLEAR PROTEIN; REPRESSOR PROTEIN; TBL1XR1 PROTEIN, HUMAN;

ARTICLE; AUTISM; CASE REPORT; CHILD; ELECTROENCEPHALOGRAM; EXCITABILITY; EXOME; FEMALE; FEVER; GENE MUTATION; GESTATIONAL AGE; HAND MOVEMENT; HORMONAL THERAPY; HUMAN; HYPERACTIVITY; HYPSARRHYTHMIA; KARYOTYPING; LABORATORY TEST; MOTOR DYSFUNCTION; MUSCLE SPASM; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; WEST SYNDROME; AUTISTIC DISORDER; EXON; GENETICS; INFANT; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; RETT SYNDROME; SPASMS, INFANTILE;

AUTISTIC DISORDER; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INFANT; MUTATION, MISSENSE; NUCLEAR PROTEINS; RECEPTORS, CYTOPLASMIC AND NUCLEAR; REPRESSOR PROTEINS; RETT SYNDROME; SPASMS, INFANTILE;

EID: 84908485746     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.71     Document Type: Article

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