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Page 1
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330.
Brain. 2023.
PMID: 36074901
Free PMC article.
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. Among authors: mattison ka.
Front Neurol. 2022 Jul 14;13:918022. doi: 10.3389/fneur.2022.918022. eCollection 2022.
Front Neurol. 2022.
PMID: 35911904
Free PMC article.
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SLC6A1 variants identified in epilepsy patients reduce γ-aminobutyric acid transport.
Mattison KA, Butler KM, Inglis GAS, Dayan O, Boussidan H, Bhambhani V, Philbrook B, da Silva C, Alexander JJ, Kanner BI, Escayg A.
Mattison KA, et al.
Epilepsia. 2018 Sep;59(9):e135-e141. doi: 10.1111/epi.14531. Epub 2018 Aug 21.
Epilepsia. 2018.
PMID: 30132828
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Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease.
Wong JC, Butler KM, Shapiro L, Thelin JT, Mattison KA, Garber KB, Goldenberg PC, Kubendran S, Schaefer GB, Escayg A.
Wong JC, et al. Among authors: mattison ka.
Front Pharmacol. 2021 Nov 17;12:748415. doi: 10.3389/fphar.2021.748415. eCollection 2021.
Front Pharmacol. 2021.
PMID: 34867351
Free PMC article.
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