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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: baines ra. Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330. Brain. 2023. PMID: 36074901 Free PMC article.
Targeting firing rate neuronal homeostasis can prevent seizures.
Mulroe F, Lin WH, Mackenzie-Gray Scott C, Aourz N, Fan YN, Coutts G, Parrish RR, Smolders I, Trevelyan A, Wykes RC, Allan S, Freeman S, Baines RA. Mulroe F, et al. Among authors: baines ra. Dis Model Mech. 2022 Oct 1;15(10):dmm049703. doi: 10.1242/dmm.049703. Epub 2022 Oct 10. Dis Model Mech. 2022. PMID: 36073607 Free PMC article.
Drosophila melanogaster in the study of epilepsy.
Muraro NI, Baines RA. Muraro NI, et al. Among authors: baines ra. SEB Exp Biol Ser. 2008;60:141-60. SEB Exp Biol Ser. 2008. PMID: 18309791 Review. No abstract available.
89 results