Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy

Brain and Development

Volumn 38, Issue 3, 2016, Pages 280-284

  Yamamoto, Toshiyuki ^a   Shimojima, Keiko ^a   Yano, Tamami ^b   Ueda, Yuki ^c   Takayama, Rumiko ^c   Ikeda, Hiroko ^c   Imai, Katsumi ^c  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b AKITA UNIVERSITY   (Japan)

^c SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

Author keywords

Loss of function; Ohtahara syndrome; STXBP1 related epileptic encephalopathy; West syndrome

Indexed keywords

ARTICLE; BRAIN RADIOGRAPHY; BRAIN SIZE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE; HUMAN; LENNOX GASTAUT SYNDROME; LOSS OF FUNCTION MUTATION; MALE; MYELINATION; NONSENSE MUTATION; SCHOOL CHILD; STXBP1 GENE; BRAIN; ELECTROENCEPHALOGRAPHY; GENETICS; INFANT; INFANTILE SPASM; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD; RNA SPLICING; STOP CODON;

MUNC18 PROTEIN; STOP CODON; STXBP1 PROTEIN, HUMAN;

BRAIN; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; COHORT STUDIES; ELECTROENCEPHALOGRAPHY; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT; MALE; MUNC18 PROTEINS; MUTATION; RNA SPLICING; SPASMS, INFANTILE;

EID: 84958119541     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2015.09.004     Document Type: Article

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