A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern

Journal of Child Neurology

Volumn 29, Issue 2, 2014, Pages 249-253

  Romaniello, Romina ^a   Zucca, Claudio ^a   Tenderini, Erika ^a   Arrigoni, Filippo ^a   Ragona, Francesca ^b   Zorzi, Giovanna ^b   Bassi, Maria Teresa ^a   Borgatti, Renato ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

epilepsy; epileptic encephalopathy; Ohtahara syndrome; STXBP1 gene; vigabatrin therapy

Indexed keywords

CARBAMAZEPINE; CLOBAZAM; ETIRACETAM; PYRIDOXINE; SYNTAXIN; SYNTAXIN BINDING PROTEIN 1; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN;

ADD ON THERAPY; AMINO ACID SUBSTITUTION; ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; CHILDHOOD DISEASE; COGNITION; CYANOSIS; ELECTROENCEPHALOGRAM; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC STATE; EXON; FOCAL EPILEPSY; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MISSENSE MUTATION; NEUROLOGIC EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE;

EPILEPSY; EPILEPTIC ENCEPHALOPATHY; OHTAHARA SYNDROME; STXBP1 GENE; VIGABATRIN THERAPY;

AMINO ACID SEQUENCE; ANTICONVULSANTS; BRAIN; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUNC18 PROTEINS; MUTATION, MISSENSE; POINT MUTATION; SEIZURES; SEQUENCE ALIGNMENT; SPASMS, INFANTILE; TREATMENT OUTCOME; VIGABATRIN;

EID: 84892766748     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073813506936     Document Type: Article

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