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Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
A. Escayg, B. T. MacDonald, M. H. Meisler, S Baulac, G Huberfeld, I An-Gourfinkel, A Brice, E LeGuern, B Moulard, D. Chaigne, C Buresi, A Malafosse, Andrew Dimond, Stefan Kubicek
2000-03-31
Amino Acid Sequence, Chromosomes, Human, Pair 2, genetics, Conserved Sequence, DNA Mutational Analysis, Epilepsy, Generalized, Female, Genetic Linkage, Heterozygote, Humans, Male, Molecular Sequence Data, NAV1.1 Voltage-Gated Sodium Channel, Nerve Tissue Proteins, Neurons, metabolism, Pedigree, Phenotype, Point Mutation, Seizures, Febrile, Sodium Channels
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Amino Acid Sequence,Chromosomes, Human, Pair 2,genetics,Conserved Sequence,DNA Mutational Analysis,Epilepsy, Generalized,Female,Genetic Linkage,Heterozygote,Humans,Male,Molecular Sequence Data,NAV1.1 Voltage-Gated Sodium Channel,Nerve Tissue Proteins,Neurons,metabolism,Pedigree,Phenotype,Point Mutation,Seizures, Febrile,Sodium Channels
Amino Acid Sequence, Chromosomes, Human, Pair 2, genetics, Conserved Sequence, DNA Mutational Analysis, Epilepsy, Generalized, Female, Genetic Linkage, Heterozygote, Humans, Male, Molecular Sequence Data, NAV1.1 Voltage-Gated Sodium Channel, Nerve Tissue Proteins, Neurons, metabolism, Pedigree, Phenotype, Point Mutation, Seizures, Febrile, Sodium Channels