title: Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
authors.affiliation: [1] Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
authors.forename: A
authors.initials: A
authors.lastname: Escayg
authors.forename: B T
authors.initials: BT
authors.lastname: MacDonald
authors.forename: M H
authors.initials: MH
authors.lastname: Meisler
authors.forename: S
authors.initials: S
authors.lastname: Baulac
authors.forename: G
authors.initials: G
authors.lastname: Huberfeld
authors.forename: I
authors.initials: I
authors.lastname: An-Gourfinkel
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: E
authors.initials: E
authors.lastname: LeGuern
authors.forename: B
authors.initials: B
authors.lastname: Moulard
authors.forename: D
authors.initials: D
authors.lastname: Chaigne
authors.forename: C
authors.initials: C
authors.lastname: Buresi
authors.forename: A
authors.initials: A
authors.lastname: Malafosse
mesh_terms: 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
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels