Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families

Amino Acid Difference Formula to Help Explain Protein Evolution

Richard Grantham · Science · 1974 · 2.4K citations

Explain Protein Evolution, Protein Chemistry, Biochemistry +12

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

Lieve Claes, Jurgen Del‐Favero, Berten Ceulemans et al. · The American Journal of Human Genetics · 2001 · 1.3K citations · Full text

Neurophysiology, Genetic Disorder, Genetics +8

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B

Robyn H. Wallace, Dao Wen Wang, Rita Singh et al. · Nature Genetics · 1998 · 1K citations

Neurophysiology, Genetic Disorder, Genetics +9

Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel

Lori L. Isom, K De Jongh, Dennis D. Patton et al. · Science · 1992 · 702 citations

Voltage-sensitive Sodium Channels, Molecular Biology, Alpha Subunits +20

Epileptic Syndromes in Infancy, Childhood and Adolescence

John B.P. Stephenson · European Journal of Paediatric Neurology · 2004 · 685 citations

Neuropsychological Functioning, Pediatrics, Epileptic Syndromes +6