Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B

Neurology

Volumn 58, Issue 9, 2002, Pages 1426-1429

  Wallace, Robyn H ^a   Scheffer, I E ^a   Parasivam, G ^a   Barnett, S ^a   Wallace, G B ^a   Sutherland, G R ^a   Berkovic, S F ^a   Mulley, J C ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL;

ARTICLE; BENIGN CHILDHOOD EPILEPSY; BETA CHAIN; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEBRILE CONVULSION; GENE EXPRESSION; GENE MUTATION; GENERALIZED EPILEPSY; GENOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0037076493     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.9.1426     Document Type: Article

References (9)

1. Generalised epilepsy with febrile seizures plus: A genetic disorder with heterogeneous clinical phenotypes
2. Generalised epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome
3. Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B
4. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
5. Neuronal sodiumchannel α1-subunit mutations in generalised epilepsy with febrile seizures plus
6. A novel SCN1A mutation associated with generalised epilepsy with febrile seizures plus - And prevalence of variants in patients with epilepsy
7. A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
8. Localisation of autosomal dominant nocturnal frontal lobe epilepsy to 20q13.2: The same region as benign neonatal convulsions
9. A scan for linkage disequilibrium across the human genome