A Novel SCN1A Mutation Associated with Generalized Epilepsy with Febrile Seizures Plus—and Prevalence of Variants in Patients with Epilepsy
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference19 articles.
1. Phenotype variation and newcomers in ion channel disorders;Bulman;Hum Mol Genet,1997
2. Proposal for revised classification of epilepsies and epileptic syndromes;Commission on Classification and Terminology of the International League against Epilepsy;Epilepsia,1989
3. Febrile seizures: long term management of children with fever-associated seizures;Consensus Statement;Pediatrics,1980
4. Coding and noncoding variation of the human calcium-channel β4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia;Escayg;Am J Hum Genet,2000
5. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2;Escayg;Nat Genet,2000
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