Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
Escayg
A
A
[1] Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
MacDonald
B T
BT
Meisler
M H
MH
Baulac
S
S
Huberfeld
G
G
An-Gourfinkel
I
I
Brice
A
A
LeGuern
E
E
Moulard
B
B
Chaigne
D
D
Buresi
C
C
Malafosse
A
A
D000595:Amino Acid Sequence; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D004829:Epilepsy, Generalized / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009474:Neurons / Q000378:metabolism*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D003294:Seizures, Febrile / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics* / Q000378:metabolism
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels