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Results: 1-8 |
Results: 8
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2
Authors: Spampanato, J Escayg, A Meisler, MH Goldin, AL
Citation: J. Spampanato et al., Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2, J NEUROSC, 21(19), 2001, pp. 7481-7490
The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate
Authors: Reid, E Escayg, A Dearlove, AM Lee, DD Meisler, MH Rubinsztein, DC
Citation: E. Reid et al., The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate, J MED GENET, 38(1), 2001, pp. 65-67
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - and prevalence of variants in patients with epilepsy
Authors: Escayg, A Heils, A MacDonald, BT Haug, K Sander, T Meisler, MH
Citation: A. Escayg et al., A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - and prevalence of variants in patients with epilepsy, AM J HU GEN, 68(4), 2001, pp. 866-873
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
Authors: Escayg, A MacDonald, BT Meisler, MH Baulac, S Huberfeld, G An-Gourfinkel, I Brice, A LeGuern, E Moulard, B Chaigne, D Buresi, C Malafosse, A
Citation: A. Escayg et al., Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2, NAT GENET, 24(4), 2000, pp. 343-345
The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a
Authors: Jones, JM Huang, JD Mermall, V Hamilton, BA Mooseker, MS Escayg, A Copeland, NG Jenkins, NA Meisler, MH
Citation: Jm. Jones et al., The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a, HUM MOL GEN, 9(5), 2000, pp. 821-828
Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodicataxia
Authors: Escayg, A De Waard, M Lee, DD Bichet, D Wolf, P Mayer, T Johnston, J Baloh, R Sander, T Meisler, MH
Citation: A. Escayg et al., Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodicataxia, AM J HU GEN, 66(5), 2000, pp. 1531-1539
Dystonia associated with mutation of the neuronal sodium channel Scn8a andidentification of the modifier locus Scnm1 on mouse chromosome 3
Authors: Sprunger, LK Escayg, A Tallaksen-Greene, S Albin, RL Meisler, MH
Citation: Lk. Sprunger et al., Dystonia associated with mutation of the neuronal sodium channel Scn8a andidentification of the modifier locus Scnm1 on mouse chromosome 3, HUM MOL GEN, 8(3), 1999, pp. 471-479
Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN
Authors: Dib-Hajj, SD Tyrrell, L Escayg, A Wood, PM Meisler, MH Waxman, SG
Citation: Sd. Dib-hajj et al., Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN, GENOMICS, 59(3), 1999, pp. 309-318
Risultati: 1-8 |