Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A

Seizure

Volumn 20, Issue 10, 2011, Pages 813-816

  Vecchi, Marilena ^a   Cassina, Matteo ^a   Casarin, Alberto ^a   Rigon, Chiara ^a   Drigo, Paola ^a   De Palma, Luca ^a   Clementi, Maurizio ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

Array CGH; BFNIS; Dravet syndrome; Genetics

Indexed keywords

CARBAMAZEPINE; SODIUM CHANNEL NAV1.2; SODIUM CHANNEL NAV1.3; VALPROIC ACID;

ARTICLE; BENIGN CHILDHOOD EPILEPSY; CASE REPORT; CHROMOSOME 2Q; CHROMOSOME 2Q24; CHROMOSOME DUPLICATION; ELECTROENCEPHALOGRAPHY; HUMAN; INFANT; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SEIZURE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY; GENE DUPLICATION; HUMANS; INFANT; MALE; MOSAICISM; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SODIUM CHANNELS;

EID: 81255208513     PISSN: 10591311     EISSN: 15322688     Source Type: Journal    
DOI: 10.1016/j.seizure.2011.07.008     Document Type: Article

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