Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

European Journal of Medical Genetics

Volumn 57, Issue 1, 2014, Pages 15-20

  Barcia, Giulia ^a,b,c   Chemaly, Nicole ^a,b,c   Gobin, Stephanie ^b   Milh, Mathieu ^d   Van Bogaert, Patrick ^e   Barnerias, Christine ^a   Kaminska, Anna ^a,b,c   Dulac, Olivier ^a,b,c   Desguerre, Isabelle ^a   Cormier, Valerie ^b   Boddaert, Nathalie ^a   Nabbout, Rima ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b INSERM   (France)

^c NeuroSpin   (France)

^d TIMONE HOSPITAL   (France)

^e HÔpital Erasme ^*  (Belgium)

Author keywords

Epileptic encephalopathies; Infantile spasms; MUNC18.1; STXBP1

Indexed keywords

BINDING PROTEIN; SYNTAXIN BINDING PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; BRAIN DISEASE; CHILD; CLINICAL ARTICLE; CORPUS CALLOSUM; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; FEMALE; GENE DELETION; GENE REARRANGEMENT; HUMAN; HYPOPLASIA; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; MALE; MISSENSE MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SCHOOL CHILD;

EPILEPTIC ENCEPHALOPATHIES; INFANTILE SPASMS; MUNC18.1; STXBP1;

CHILD, PRESCHOOL; CORPUS CALLOSUM; DNA MUTATIONAL ANALYSIS; FEMALE; FRONTAL LOBE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUNC18 PROTEINS; MUTATION; PHENOTYPE; SPASMS, INFANTILE;

EID: 84892518611     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.10.006     Document Type: Article

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