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64 results

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Page 1
ATP6V0C variants impair V-ATPase function 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 der Zwaag B, Aleck KA, Fazenbaker AC, Balciuniene J, Dubbs HA, Marsh ED, Garber K, Ek J, Duno M, Hoei-Hansen CE, Deardorff MA, Raca G, Quindipan C, 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, Argilli E, Sherr EH, Dobyns WB; Genomics England Research Consortium; Baines RA, Warwicker J, Parker JA, Banka S, Campeau PM, Escayg A. Mattison KA, et al. Among authors: escayg a. Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. Brain. 2023. PMID: 36074901 Free PMC article.
Genetic influences on ketogenic diet efficacy.
Dutton SB, Escayg A. Dutton SB, et al. Among authors: escayg a. 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.
Mutations in plasticity-related-gene-1 (PRG-1) protein contribute to hippocampal seizure susceptibility and modify epileptic phenotype.
Knierim E, Vogt J, Kintscher M, Ponomarenko A, Baumgart J, Beed P, Korotkova T, Trimbuch T, Panzer A, Steinlein OK, Stephani U, Escayg A, Koko M, Liu Y, Lerche H, Schmitz D, Nitsch R, Schuelke M. Knierim E, et al. Among authors: escayg a. Cereb Cortex. 2023 Jun 8;33(12):7454-7467. doi: 10.1093/cercor/bhad051. Cereb Cortex. 2023. PMID: 36977636
Turning Up the Heat on Endocannabinoid Signaling.
Wong JC, Escayg A. Wong JC, et al. Among authors: escayg a. 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. Among authors: escayg a. 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.
64 results