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9. Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy. Quinn S; Zhang N; Fenton TA; Brusel M; Muruganandam P; Peleg Y; Giladi M; Haitin Y; Lerche H; Bassan H; Liu Y; Ben-Shalom R; Rubinstein M Biochim Biophys Acta Mol Basis Dis; 2024 Jun; 1870(5):167127. PubMed ID: 38519006 [TBL] [Abstract][Full Text] [Related]
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14. Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach. Boerma RS; Braun KP; van den Broek MP; van Berkestijn FM; Swinkels ME; Hagebeuk EO; Lindhout D; van Kempen M; Boon M; Nicolai J; de Kovel CG; Brilstra EH; Koeleman BP Neurotherapeutics; 2016 Jan; 13(1):192-7. PubMed ID: 26252990 [TBL] [Abstract][Full Text] [Related]
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16. The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin. Barker BS; Ottolini M; Wagnon JL; Hollander RM; Meisler MH; Patel MK Epilepsia; 2016 Sep; 57(9):1458-66. PubMed ID: 27375106 [TBL] [Abstract][Full Text] [Related]
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18. Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy. Wengert ER; Tronhjem CE; Wagnon JL; Johannesen KM; Petit H; Krey I; Saga AU; Panchal PS; Strohm SM; Lange J; Kamphausen SB; Rubboli G; Lemke JR; Gardella E; Patel MK; Meisler MH; Møller RS Epilepsia; 2019 Nov; 60(11):2277-2285. PubMed ID: 31625145 [TBL] [Abstract][Full Text] [Related]
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20. Genetic and clinical features of SCN8A developmental and epileptic encephalopathy. Kim HJ; Yang D; Kim SH; Kim B; Kim HD; Lee JS; Choi JR; Lee ST; Kang HC Epilepsy Res; 2019 Dec; 158():106222. PubMed ID: 31675620 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]