SCN1A mutations and epilepsy

Human Mutation

Volumn 25, Issue 6, 2005, Pages 535-542

  Mulley, John C ^a,b   Scheffer, Ingrid E ^c,d   Petrou, Steven ^c,e   Dibbens, Leanne M ^a,b   Berkovic, Samuel F ^c,d   Harkin, Louise A ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d AUSTIN HEALTH   (Australia)

^e Bionomics Ltd   (Australia)

Author keywords

Encephalopathy, childhood; GEFS+; Generalized epilepsy with febrile seizures plus; SCN1A; Severe myoclonic epilepsy of infancy; SMEI

Indexed keywords

SODIUM CHANNEL;

BRAIN DISEASE; CHROMOSOME 2Q; EPILEPSY; EXON; FEBRILE CONVULSION; GENE; GENE CLUSTER; GENE MUTATION; GENETIC CODE; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; REVIEW; SCN1A GENE;

ALTERNATIVE SPLICING; EPILEPSY; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; SODIUM CHANNELS;

EID: 20344392182     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20178     Document Type: Review

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