Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)
P Cossette, A Loukas, RG Lafrenière, D Rochefort… - Epilepsy research, 2003 - Elsevier
Mutations in the alpha 1 subunit of the voltage-gated sodium channel (SCN1A) have been
increasingly recognized as an important cause of familial epilepsy in humans. However, the
functional consequences of these mutations remain largely unknown. We identified a
mutation (D188V) in SCN1A segregating with generalized epilepsy with febrile seizures
(GEFS) in a large kindred. Compared to wild-type sodium channels, in vitro expression of
channels harboring the D188V mutation were found to be more resistant to the decline in …
increasingly recognized as an important cause of familial epilepsy in humans. However, the
functional consequences of these mutations remain largely unknown. We identified a
mutation (D188V) in SCN1A segregating with generalized epilepsy with febrile seizures
(GEFS) in a large kindred. Compared to wild-type sodium channels, in vitro expression of
channels harboring the D188V mutation were found to be more resistant to the decline in …