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Items: 1 to 20 of 62


De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.

Butler KM, Moody OA, Schuler E, Coryell J, Alexander JJ, Jenkins A, Escayg A.

Brain. 2018 Jun 28. doi: 10.1093/brain/awy171. [Epub ahead of print]


Selective targeting of Scn8a prevents seizure development in a mouse model of mesial temporal lobe epilepsy.

Wong JC, Makinson CD, Lamar T, Cheng Q, Wingard JC, Terwilliger EF, Escayg A.

Sci Rep. 2018 Jan 9;8(1):126. doi: 10.1038/s41598-017-17786-0.


Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Butler KM, da Silva C, Alexander JJ, Hegde M, Escayg A.

Pediatr Neurol. 2017 Dec;77:61-66. doi: 10.1016/j.pediatrneurol.2017.09.003. Epub 2017 Sep 6.


GPR37L1 modulates seizure susceptibility: Evidence from mouse studies and analyses of a human GPR37L1 variant.

Giddens MM, Wong JC, Schroeder JP, Farrow EG, Smith BM, Owino S, Soden SE, Meyer RC, Saunders C, LePichon JB, Weinshenker D, Escayg A, Hall RA.

Neurobiol Dis. 2017 Oct;106:181-190. doi: 10.1016/j.nbd.2017.07.006. Epub 2017 Jul 6.


The RNA-binding protein, ZC3H14, is required for proper poly(A) tail length control, expression of synaptic proteins, and brain function in mice.

Rha J, Jones SK, Fidler J, Banerjee A, Leung SW, Morris KJ, Wong JC, Inglis GAS, Shapiro L, Deng Q, Cutler AA, Hanif AM, Pardue MT, Schaffer A, Seyfried NT, Moberg KH, Bassell GJ, Escayg A, García PS, Corbett AH.

Hum Mol Genet. 2017 Oct 1;26(19):3663-3681. doi: 10.1093/hmg/ddx248.


Early-life febrile seizures worsen adult phenotypes in Scn1a mutants.

Dutton SBB, Dutt K, Papale LA, Helmers S, Goldin AL, Escayg A.

Exp Neurol. 2017 Jul;293:159-171. doi: 10.1016/j.expneurol.2017.03.026. Epub 2017 Apr 1.


Regulation of Thalamic and Cortical Network Synchrony by Scn8a.

Makinson CD, Tanaka BS, Sorokin JM, Wong JC, Christian CA, Goldin AL, Escayg A, Huguenard JR.

Neuron. 2017 Mar 8;93(5):1165-1179.e6. doi: 10.1016/j.neuron.2017.01.031. Epub 2017 Feb 23.


SCN3A deficiency associated with increased seizure susceptibility.

Lamar T, Vanoye CG, Calhoun J, Wong JC, Dutton SBB, Jorge BS, Velinov M, Escayg A, Kearney JA.

Neurobiol Dis. 2017 Jun;102:38-48. doi: 10.1016/j.nbd.2017.02.006. Epub 2017 Feb 22.


De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.

Butler KM, da Silva C, Shafir Y, Weisfeld-Adams JD, Alexander JJ, Hegde M, Escayg A.

Epilepsy Res. 2017 Jan;129:17-25. doi: 10.1016/j.eplepsyres.2016.11.002. Epub 2016 Nov 6.


Turning Up the Heat on Endocannabinoid Signaling.

Wong JC, Escayg A.

Epilepsy Curr. 2016 Nov-Dec;16(6):414-415. No abstract available.


Huperzine A Provides Robust and Sustained Protection against Induced Seizures in Scn1a Mutant Mice.

Wong JC, Dutton SB, Collins SD, Schachter S, Escayg A.

Front Pharmacol. 2016 Oct 17;7:357. eCollection 2016.


Fgf13 Identified as a Novel Cause of GEFS.

Wong JC, Escayg A.

Epilepsy Curr. 2016 Mar-Apr;16(2):112-3. doi: 10.5698/1535-7511-16.2.112. No abstract available.


Scn1a dysfunction alters behavior but not the effect of stress on seizure response.

Sawyer NT, Helvig AW, Makinson CD, Decker MJ, Neigh GN, Escayg A.

Genes Brain Behav. 2016 Mar;15(3):335-47. doi: 10.1111/gbb.12281. Epub 2016 Jan 21.


Illuminating the Cerebellum as a Potential Target for Treating Epilepsy.

Wong JC, Escayg A.

Epilepsy Curr. 2015 Sep-Oct;15(5):277-8. doi: 10.5698/1535-7511-15.5.277. No abstract available.


An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior.

Makinson CD, Dutt K, Lin F, Papale LA, Shankar A, Barela AJ, Liu R, Goldin AL, Escayg A.

Exp Neurol. 2016 Jan;275 Pt 1:46-58. doi: 10.1016/j.expneurol.2015.09.008. Epub 2015 Sep 26.


Complex genetic interactions in a mouse model of absence epilepsy.

Goldin AL, Escayg A.

Epilepsy Curr. 2015 Jan-Feb;15(1):50-1. doi: 10.5698/1535-7597-15.1.50. No abstract available.


Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human Na(V)1.1 mutation.

Hedrich UB, Liautard C, Kirschenbaum D, Pofahl M, Lavigne J, Liu Y, Theiss S, Slotta J, Escayg A, Dihné M, Beck H, Mantegazza M, Lerche H.

J Neurosci. 2014 Nov 5;34(45):14874-89. doi: 10.1523/JNEUROSCI.0721-14.2014.


Toward routine genetics-based diagnoses for the epileptic encephalopathies.

Escayg A, Wong JC.

Epilepsy Curr. 2014 May;14(3):158-60. doi: 10.5698/1535-7597-14.3.158. No abstract available.


Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance.

Makinson CD, Tanaka BS, Lamar T, Goldin AL, Escayg A.

Neurobiol Dis. 2014 Aug;68:16-25. doi: 10.1016/j.nbd.2014.03.014. Epub 2014 Apr 2.


Nav1.1 modulation by a novel triazole compound attenuates epileptic seizures in rodents.

Gilchrist J, Dutton S, Diaz-Bustamante M, McPherson A, Olivares N, Kalia J, Escayg A, Bosmans F.

ACS Chem Biol. 2014 May 16;9(5):1204-12. doi: 10.1021/cb500108p. Epub 2014 Mar 31.

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