A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: Is there a common core deficit?

Epilepsy and Behavior

Volumn 43, Issue , 2015, Pages 89-92

  Passamonti, Claudia ^a   Petrelli, Cristina ^b   Mei, Davide ^c   Foschi, Nicoletta ^b   Guerrini, Renzo ^c   Provinciali, Leandro ^b   Zamponi, Nelia ^a  

^a OSPEDALI RIUNITI   (Italy)

^b UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Dravet syndrome spectrum; Neuropsychological phenotype; SCN1A gene

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; ELECTROENCEPHALOGRAM; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; GENERALIZED EPILEPSY; HUMAN; MALE; MOTOR DYSFUNCTION; MOTOR PERFORMANCE; MUTATOR GENE; NEUROPSYCHOLOGICAL TEST; PHENOTYPE; SCN1A GENE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; VISUAL IMPAIRMENT; AGED; COGNITION DISORDERS; FAMILY; GENETICS; MIDDLE AGED; MISSENSE MUTATION; MUTATION; MYOCLONUS EPILEPSY; PEDIGREE; PRESCHOOL CHILD; PSYCHOLOGY; PSYCHOMOTOR PERFORMANCE; RNA SPLICING;

SCN1A PROTEIN, HUMAN; SODIUM CHANNEL NAV1.1;

ADULT; AGED; CHILD, PRESCHOOL; COGNITION DISORDERS; EPILEPSIES, MYOCLONIC; EPILEPSIES, PARTIAL; EPILEPSY, GENERALIZED; FAMILY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PSYCHOMOTOR PERFORMANCE; RNA SPLICING; SEIZURES, FEBRILE;

EID: 84920613670     PISSN: 15255050     EISSN: 15255069     Source Type: Journal    
DOI: 10.1016/j.yebeh.2014.11.009     Document Type: Article

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