23 results for author:"Escayg A." in Literature citations
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| Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. Hawkins N.A., Martin M.S., Frankel W.N., Kearney J.A., Escayg A. Neurobiol. Dis. 41:655-660(2011) · Mapped (59) |
| Dysfunction of the Scn8a voltage-gated sodium channel alters sleep architecture, reduces diurnal corticosterone levels, and enhances spatial memory. Papale L.A., Paul K.N., Sawyer N.T., Manns J.R., Tufik S., Escayg A. J. Biol. Chem. 285:16553-16561(2010) · Mapped (7) |
| Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. Martin M.S., Dutt K., Papale L.A., Dube C.M., Dutton S.B., de Haan G., Shankar A., Tufik S., Meisler M.H., Baram T.Z. et al. J. Biol. Chem. 285:9823-9834(2010) · Mapped (8) |
| A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. Tang B., Dutt K., Papale L., Rusconi R., Shankar A., Hunter J., Tufik S., Yu F.H., Catterall W.A., Mantegazza M. et al. Neurobiol. Dis. 35:91-102(2009) · Mapped (8) |
| Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice. Papale L.A., Beyer B., Jones J.M., Sharkey L.M., Tufik S., Epstein M., Letts V.A., Meisler M.H., Frankel W.N., Escayg A. Hum. Mol. Genet. 18:1633-1641(2009) · Mapped (7) |
| Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy. Tang B., Sander T., Craven K.B., Hempelmann A., Escayg A. Neurobiol. Dis. 29:59-70(2008) · Mapped (4) |
| The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. Martin M.S., Tang B., Papale L.A., Yu F.H., Catterall W.A., Escayg A. Hum. Mol. Genet. 16:2892-2899(2007) · Mapped (15) |
| Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences. Martin M.S., Tang B., Ta N., Escayg A. Genomics 90:225-235(2007) · Mapped (16) |
| Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4. von Brevern M., Ta N., Shankar A., Wiste A., Siegel A., Radtke A., Sander T., Escayg A. |
| An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability. Barela A.J., Waddy S.P., Lickfett J.G., Hunter J., Anido A., Helmers S.L., Goldin A.L., Escayg A. J. Neurosci. 26:2714-2723(2006) · UniProtKB (1) |
| Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Kearney J.A., Wiste A.K., Stephani U., Trudeau M.M., Siegel A., Ramachandrannair R., Elterman R.D., Muhle H., Reinsdorf J., Shields W.D. et al. Pediatr. Neurol. 34:116-120(2006) · UniProtKB (1) |
| A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. Spampanato J., Kearney J.A., de Haan G., McEwen D.P., Escayg A., Aradi I., MacDonald B.T., Levin S.I., Soltesz I., Benna P. et al. J. Neurosci. 24:10022-10034(2004) · UniProtKB (1) · Mapped (6) |
| Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Weiss L.A., Escayg A., Kearney J.A., Trudeau M., MacDonald B.T., Mori M., Reichert J., Buxbaum J.D., Meisler M.H. Mol. Psychiatry 8:186-194(2003) · UniProtKB (3) · Mapped (13) |
| Identification of epilepsy genes in human and mouse. Meisler M.H., Kearney J., Ottman R., Escayg A. Annu. Rev. Genet. 35:567-588(2001) · Mapped (67) |
| A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -- and prevalence of variants in patients with epilepsy. Escayg A., Heils A., MacDonald B.T., Haug K., Sander T., Meisler M.H. Am. J. Hum. Genet. 68:866-873(2001) · UniProtKB (1) · Mapped (6) |
| Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Escayg A., De Waard M., Lee D.D., Bichet D., Wolf P., Mayer T., Johnston J., Baloh R., Sander T., Meisler M.H. Am. J. Hum. Genet. 66:1531-1539(2000) · UniProtKB (2) · Mapped (2) |
| The mouse neurological mutant flailer expresses a novel hybrid gene derived by exon shuffling between Gnb5 and Myo5a. Jones J.M., Huang J.D., Mermall V., Hamilton B.A., Mooseker M.S., Escayg A., Copeland N.G., Jenkins N.A., Meisler M.H. Hum. Mol. Genet. 9:821-828(2000) · Mapped (20) |
| Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G., An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D. et al. |
| Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN. Dib-Hajj S.D., Tyrrell L., Escayg A., Wood P.M., Meisler M.H., Waxman S.G. |
| Dystonia associated with mutation of the neuronal sodium channel Scn8a and identification of the modifier locus Scnm1 on mouse chromosome 3. Sprunger L.K., Escayg A., Tallaksen-Greene S., Albin R.L., Meisler M.H. Hum. Mol. Genet. 8:471-479(1999) · Mapped (7) |
| Calcium channel beta4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic. Escayg A., Jones J.M., Kearney J.A., Hitchcock P.F., Meisler M.H. |
| Ion channel mutations in mouse models of inherited neurological disease. Meisler M.H., Sprunger L.K., Plummer N.W., Escayg A., Jones J.M. Ann. Med. 29:569-574(1997) · Mapped (19) |
| Polymorphism at the ovine major histocompatibility complex class II loci. Escayg A.P., Hickford J.G., Montgomery G.W., Dodds K.G., Bullock D.W. Anim. Genet. 27:305-312(1996) · UniProtKB (10) |