A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype

NeuroReport

Volumn 26, Issue 5, 2015, Pages 254-257

  Romaniello, Romina ^a   Saettini, Francesco ^b   Panzeri, Elena ^a   Arrigoni, Filippo ^a   Bassi, Maria T ^a   Borgatti, Renato ^a  

^a SCIENTIFIC INSTITUTE   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

Author keywords

Epilepsy; Rett syndrome; STXBP1

Indexed keywords

NEURON SPECIFIC NUCLEAR PROTEIN; SYNTAXIN BINDING PROTEIN 1; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN; MUNC18 PROTEIN; STXBP1 PROTEIN, HUMAN;

ARTICLE; ATAXIA; CASE REPORT; CHILD; CLINICAL FEATURE; DRUG WITHDRAWAL; EEG ABNORMALITY; EXON; FEMALE; FOCAL EPILEPSY; HUMAN; HYPSARRHYTHMIA; LANGUAGE DISABILITY; MENTAL DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; SYNAPSE VESICLE; WEST SYNDROME; BRAIN; COMPLICATION; EPILEPSY; GENETICS; PATHOLOGY;

BRAIN; CHILD; EPILEPSY; FEMALE; HUMANS; MUNC18 PROTEINS; MUTATION, MISSENSE; PHENOTYPE; RETT SYNDROME;

EID: 84924973227     PISSN: 09594965     EISSN: 1473558X     Source Type: Journal    
DOI: 10.1097/WNR.0000000000000337     Document Type: Article

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