A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency

European Journal of Medical Genetics

Volumn 56, Issue 12, 2013, Pages 683-685

  Barcia, G ^a,b,c   Barnerias, C ^a,b,c   Rio, M ^d   Siquier Pernet, K ^d   Desguerre, I ^a,b,c   Colleaux, L ^d   Munnich, A ^d   Rotig, A ^d   Nabbout, R ^a,b,c  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c NeuroSpin   (France)

^d IMAGINE INSTITUTE   (France)

Author keywords

Complex IV; Early epilepsy mental retardation; Respiratory chain deficit; STXBP1

Indexed keywords

HYDROCORTISONE; VALPROIC ACID; VIGABATRIN;

ARTICLE; CASE REPORT; CHILD; ELECTROENCEPHALOGRAM; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; INFANT; MALE; MENTAL DEFICIENCY; NEUROLOGIC EXAMINATION; OHTAHARA SYNDROME; PARTIAL RESPIRATORY CHAIN COMPLEX IV DEFICIENCY; PROTEIN DEFICIENCY; SCHOOL CHILD; SEIZURE; STXBP1 GENE; TONIC CLONIC SEIZURE;

COMPLEX IV; EARLY EPILEPSY MENTAL RETARDATION; RESPIRATORY CHAIN DEFICIT; STXBP1;

BRAIN WAVES; CODON, NONSENSE; ELECTRON TRANSPORT COMPLEX IV; HUMANS; INFANT; INTELLECTUAL DISABILITY; MALE; MUNC18 PROTEINS; SPASMS, INFANTILE;

EID: 84888067407     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.09.013     Document Type: Article

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