A novel STXBP1 mutation causes focal seizures with neonatal onset

Journal of Child Neurology

Volumn 27, Issue 6, 2012, Pages 811-814

  Vatta, Matteo ^a   Tennison, Michael B ^b   Aylsworth, Arthur S ^b   Turcott, Christie M ^b   Guerra, Maria P ^c   Eng, Christine M ^a   Yang, Yaping ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

epilepsy; focal seizure; genetics; levetiracetam; neonatal onset epileptic encephalopathy; oxcarbazepine; STXBP1

Indexed keywords

BINDING PROTEIN; ETIRACETAM; OXCARBAZEPINE; PHENOBARBITAL; PYRIDOXAL 5 PHOSPHATE; SYNTAXIN; SYNTAXIN BINDING PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; DRUG SUBSTITUTION; ELECTROENCEPHALOGRAPHY; EXON; FOCAL EPILEPSY; GENE DUPLICATION; GENE LOCUS; GENE MUTATION; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; OHTAHARA SYNDROME; ONSET AGE; PRIORITY JOURNAL; TREATMENT OUTCOME; WEST SYNDROME;

BRAIN WAVES; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EXONS; GENES, DUPLICATE; HUMANS; INFANT, NEWBORN; MALE; MUNC18 PROTEINS; SEIZURES;

EID: 84861325750     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811435246     Document Type: Article

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