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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1996 1
1997 2
1998 1
1999 2
2000 4
2001 5
2002 1
2003 2
2004 1
2006 4
2007 3
2008 2
2009 2
2010 5
2011 2
2012 2
2013 5
2014 5
2015 3
2016 6
2017 7
2018 5
2019 7
2020 3
2021 5
2022 4
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81 results
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Page 1
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy.
Mattison KA, Tossing G, Mulroe F, Simmons C, Butler KM, Schreiber A, Alsadah A, Neilson DE, Naess K, Wedell A, Wredenberg A, Sorlin A, McCann E, Burghel GJ, Menendez B, Hoganson GE, Botto LD, Filloux FM, Aledo-Serrano Á, Gil-Nagel A, Tatton-Brown K, Verbeek NE, van Hirtum-Das M, Breckpot J, Hammer TB, Møller RS, Whitney A, Douglas AGL, Kharbanda M, Brunetti-Pierri N, Morleo M, Nigro V, May HJ, Tao JX, Argili E, Sherr EH, Dobyns WB, Consortium GER, Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. Mattison KA, et al. Brain. 2022 Sep 8:awac330. doi: 10.1093/brain/awac330. Online ahead of print. Brain. 2022. PMID: 36074901
Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior.
Badshah N, Mattison KA, Ahmad S, Chopra P, Johnston HR, Ahmad S, Khan SH, Sarwar MT, Cutler DJ, Taylor M, Vadlamani G, Zwick ME, Escayg A. Badshah N, et al. Front Neurol. 2022 Jul 14;13:918022. doi: 10.3389/fneur.2022.918022. eCollection 2022. Front Neurol. 2022. PMID: 35911904 Free PMC article.
From DREADD to Treatment in Temporal Lobe Epilepsy.
Wong JC, Escayg A. Wong JC, et al. Epilepsy Curr. 2019 Jan;19(1):47-48. doi: 10.1177/1535759718822035. Epub 2019 Jan 30. Epilepsy Curr. 2019. PMID: 30838921 Free PMC article.
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. Rha J, et al. Hum Mol Genet. 2017 Oct 1;26(19):3663-3681. doi: 10.1093/hmg/ddx248. Hum Mol Genet. 2017. PMID: 28666327 Free PMC article.
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. Makinson CD, et al. Neuron. 2017 Mar 8;93(5):1165-1179.e6. doi: 10.1016/j.neuron.2017.01.031. Epub 2017 Feb 23. Neuron. 2017. PMID: 28238546 Free PMC article.
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. Lamar T, et al. Neurobiol Dis. 2017 Jun;102:38-48. doi: 10.1016/j.nbd.2017.02.006. Epub 2017 Feb 22. Neurobiol Dis. 2017. PMID: 28235671 Free PMC article.
Turning Up the Heat on Endocannabinoid Signaling.
Wong JC, Escayg A. Wong JC, et al. Epilepsy Curr. 2016 Nov-Dec;16(6):414-415. doi: 10.5698/1535-7511-16.6.414. Epilepsy Curr. 2016. PMID: 27857628 Free PMC article. No abstract available.
Fgf13 Identified as a Novel Cause of GEFS.
Wong JC, Escayg A. Wong JC, et al. Epilepsy Curr. 2016 Mar-Apr;16(2):112-3. doi: 10.5698/1535-7511-16.2.112. Epilepsy Curr. 2016. PMID: 27073347 Free PMC article. No abstract available.
Protective effect of the ketogenic diet in Scn1a mutant mice.
Dutton SB, Sawyer NT, Kalume F, Jumbo-Lucioni P, Borges K, Catterall WA, Escayg A. Dutton SB, et al. Epilepsia. 2011 Nov;52(11):2050-6. doi: 10.1111/j.1528-1167.2011.03211.x. Epub 2011 Jul 29. Epilepsia. 2011. PMID: 21801172 Free PMC article.
Genetic influences on ketogenic diet efficacy.
Dutton SB, Escayg A. Dutton SB, et al. Epilepsia. 2008 Nov;49 Suppl 8(Suppl 8):67-9. doi: 10.1111/j.1528-1167.2008.01839.x. Epilepsia. 2008. PMID: 19049592 Free PMC article. Review.
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A. Kearney JA, et al. Pediatr Neurol. 2006 Feb;34(2):116-20. doi: 10.1016/j.pediatrneurol.2005.07.009. Pediatr Neurol. 2006. PMID: 16458823
Sodium channels SCN1A, SCN2A and SCN3A in familial autism.
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH. Weiss LA, et al. Mol Psychiatry. 2003 Feb;8(2):186-94. doi: 10.1038/sj.mp.4001241. Mol Psychiatry. 2003. PMID: 12610651
Identification of epilepsy genes in human and mouse.
Meisler MH, Kearney J, Ottman R, Escayg A. Meisler MH, et al. Annu Rev Genet. 2001;35:567-88. doi: 10.1146/annurev.genet.35.102401.091142. Annu Rev Genet. 2001. PMID: 11700294 Free PMC article. Review.
Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2.
Spampanato J, Escayg A, Meisler MH, Goldin AL. Spampanato J, et al. J Neurosci. 2001 Oct 1;21(19):7481-90. doi: 10.1523/JNEUROSCI.21-19-07481.2001. J Neurosci. 2001. PMID: 11567038 Free PMC article.
Two mutations that cause generalized epilepsy with febrile seizures plus (GEFS+) have been identified previously in the SCN1A gene encoding the alpha subunit of the Na(v)1.1 voltage-gated sodium channel (Escayg et al., 2000). Both mutations change conserved residues in put …
Two mutations that cause generalized epilepsy with febrile seizures plus (GEFS+) have been identified previously in the SCN1A gene encoding …
Evolution of the ovine MHC DQA region.
Hickford JG, Ridgway HJ, Escayg AP. Hickford JG, et al. Anim Genet. 2000 Jun;31(3):200-5. doi: 10.1046/j.1365-2052.2000.00635.x. Anim Genet. 2000. PMID: 10895311 Free article.
A BglII RFLP at the ovine MHC class II DRA locus.
Escayg AP, Montgomery GW, Hickford JG, Bullock DW. Escayg AP, et al. Anim Genet. 1993 Jun;24(3):217. doi: 10.1111/j.1365-2052.1993.tb00292.x. Anim Genet. 1993. PMID: 8103303 No abstract available.