Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

Epilepsia

Volumn 51, Issue 12, 2010, Pages 2474-2477

  Guerrini, Renzo ^a,b   Cellini, Elena ^a   Mei, Davide ^a   Metitieri, Tiziana ^a   Petrelli, Cristina ^c   Pucatti, Daniela ^a   Marini, Carla ^a   Zamponi, Nelia ^c  

^a UNIVERSITY OF FLORENCE   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c OSPEDALI RIUNITI   (Italy)

Author keywords

Dravet syndrome; Intrafamilial heterogeneity; MLPA; SCN9A; Seizures

Indexed keywords

ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; EPILEPSY; FEBRILE CONVULSION; FEMALE; FOCAL EPILEPSY; GENE; GENE DELETION; GENE IDENTIFICATION; GENE SEQUENCE; GRAND MAL SEIZURE; HAPLOTYPE; HUMAN; LOSS OF FUNCTION MUTATION; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SCHOOL CHILD; SCNIA GENE; SEQUENCE ANALYSIS; TONIC CLONIC SEIZURE;

ADULT; AGED; CHILD; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; EPILEPSY, GENERALIZED; FAMILY; FEMALE; GENE DELETION; GENETIC HETEROGENEITY; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; SEIZURES, FEBRILE; SODIUM CHANNELS;

EID: 78649993979     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2010.02790.x     Document Type: Article

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