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Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior.
Front Neurol. 2022 Jul 14;13:918022. doi: 10.3389/fneur.2022.918022. eCollection 2022.
Front Neurol. 2022.
PMID: 35911904
Free PMC article.
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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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.
Brain. 2023 Apr 19;146(4):1357-1372. doi: 10.1093/brain/awac330.
Brain. 2023.
PMID: 36074901
Free PMC article.
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