Genotype-phenotype correlations in a group of 15 SCN1A-mutated italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy)

Journal of Child Neurology

Volumn 25, Issue 11, 2010, Pages 1369-1376

  Nicita, Francesco ^a   Spalice, Alberto ^a   Papetti, Laura ^a   Ursitti, Fabiana ^a   Parisi, Pasquale ^a   Gennaro, Elena ^b   Zara, Federico ^c   Iannetti, Paola ^a  

^a POLICLINICO UMBERTO I   (Italy)

^b GALLIERA HOSPITAL   (Italy)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

Dravet syndrome; genotype phenotype; SCN1A

Indexed keywords

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FEMALE; FOLLOW UP; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INHERITANCE; INTRON; MALE; MYOCLONUS EPILEPSY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SCNIA GENE; SEIZURE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; EPILEPSY, GENERALIZED; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; ITALY; MALE; MUTATION; MYOCLONIC EPILEPSY, JUVENILE; NERVE TISSUE PROTEINS; PHENOTYPE; SEIZURES, FEBRILE; SODIUM CHANNELS; YOUNG ADULT;

EID: 78650183523     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810365737     Document Type: Article

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