Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

Neurology

Volumn 75, Issue 13, 2010, Pages 1159-1165

  Deprez, L ^a,c   Weckhuysen, S ^a,c,d   Holmgren, P ^a,c   Suls, A ^a,c   Van Dyck, T ^a,c   Goossens, D ^a,b   Del Favero, J ^a,b   Jansen, A ^a,c,e   Verhaert, K ^f   Lagae, L ^h   Jordanova, A ^a,c,e   Van Coster, R ⁱ   Yendle, S ^j   Berkovic, S F ^j   Scheffer, I ^j   Ceulemans, B ^a,f   De Jonghe, P ^a,c,g  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d EPILEPSY CENTER KEMPENHAEGHE   (Netherlands)

^e UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^f Pediatric Neurology   (Belgium)

^g ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^h UNIVERSITY HOSPITALS LEUVEN   (Belgium)

ⁱ GHENT UNIVERSITY HOSPITAL   (Belgium)

^j UNIVERSITY OF MELBOURNE   (Australia)

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Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; ATAXIA; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE SEVERITY; DYSKINESIA; EXON; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; INFANT; INTRON; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; NEWBORN; ONSET AGE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; STXBP1 GENE; WEST SYNDROME; COHORT ANALYSIS; ELECTROENCEPHALOGRAPHY; GENETICS; METHODOLOGY; MUTATION; MYOCLONUS EPILEPSY;

ANTICONVULSIVE AGENT; MUNC18 PROTEIN; STXBP1 PROTEIN, HUMAN;

ANTICONVULSANTS; CHILD; COHORT STUDIES; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MUNC18 PROTEINS; MUTATION;

EID: 77957945296     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181f4d7bf     Document Type: Article

References (11)

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