2020
DOI: 10.1016/j.eplepsyres.2019.106261
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A multi-disciplinary clinic for SCN8A-related epilepsy

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Cited by 26 publications
(53 citation statements)
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“…A total of 49 studies on 27 genes satisfied the inclusion criteria. We identified more than one paper for eight genes: ATP1A3 (one case series [13], one case report [14]); GNAO1 (four original articles [15][16][17][18], one case report [19]); KCNQ2 (two original articles [20,21], one case series [22], two case reports [23,24]); SCN8A (three original articles [6,25,26], two case reports [27,28]); SLC13A5 (two original articles [29,30]); STXBP1 (two original articles [31,32], one case series [33], one case report [34]); SCN2A (three original articles [35][36][37] and two case reports [38,39]); and SYNJ1 (one original article [40] and one case report [41]).…”
Section: Genetic Resultsmentioning
confidence: 99%
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“…A total of 49 studies on 27 genes satisfied the inclusion criteria. We identified more than one paper for eight genes: ATP1A3 (one case series [13], one case report [14]); GNAO1 (four original articles [15][16][17][18], one case report [19]); KCNQ2 (two original articles [20,21], one case series [22], two case reports [23,24]); SCN8A (three original articles [6,25,26], two case reports [27,28]); SLC13A5 (two original articles [29,30]); STXBP1 (two original articles [31,32], one case series [33], one case report [34]); SCN2A (three original articles [35][36][37] and two case reports [38,39]); and SYNJ1 (one original article [40] and one case report [41]).…”
Section: Genetic Resultsmentioning
confidence: 99%
“…The main seizure types at onset include "focal" (30 patients, 14 with clonic seizures), tonic (24), epileptic spasms (ES) (14), and myoclonic (10) [6,15,[17][18][19]22,[25][26][27][28][31][32][33][34][35]39,[42][43][44][45][46][47][48][49][50][51][52][53][54][55][56]. Thirteen patients had tonic-clonic seizures [6,15,16,26,33,54,56,57], twelve had subtle seizures [19,29,30,36,38,39,41,44,46,54,…”
Section: Genetic Resultsmentioning
confidence: 99%
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“…This (Vanoye et al, 2014) *Non genetic origin mutations reported: Mutations described through clinical diagnosis, but the mutation type (Mendelian or de novo) were not reported, mainly due to the lack of parents to perform genotyping and difficulty in contacting the family. DII (S1) Missense NR (Butler et al, 2017b;Hewson et al, 2018;Lindy et al, 2018;Costain et al, 2019;Johannesen et al, 2019) T767I DII (S1) Missense Decreased current density Increased current amplitude provokes by voltage ramp protocol (Estacion et al, 2014;Gardella et al, 2018;Lindy et al, (Fung et al, 2015;Zhang et al, 2015;Lindy et al, 2018;Kim et al, 2019;Tsang et al, 2019;Pan and Cummins, 2020;Schreiber et al, DIII (S6)-DIV (S1) Missense NR (Pons et al, 2018;Denis et al, 2019) G1475R DIII (S6)-DIV (S1) Missense Enhanced persistent current (Hussain et al, 2016;Ortiz Madinaveitia et al, 2017;Parrini et al, 2017;Wang et al, 2017a;Gardella et al, 2018;Lindy et al, 2018;Xiao et al, 2018;Kim et al, 2019;Trivisano et al, 2019;Zaman et al, 2019;Ranza et al, 2020;Schreiber et al, 2020) G1476S DIII (S6)-DIV (S1) Missense NR (Lindy et al, 2018) I1479V DIII (S6)-DIV (S1) Missense NR (Larsen et al, 2015;Lindy et al, 2018;Schreiber et al, 2020) E1483K DIII (S6)-DIV (S1) Missense NR (Johannesen et al, 20...…”
Section: Nav16mentioning
confidence: 99%
“…Loss-of-function mutations have been associated with intellectual disability and ataxia in humans. [16][17][18] Studies in larger populations affected by SCN8A-related disorders 9,19 have shown that mutations can be found in any part of the gene and they were found in the cytoplasmic loos, extracellular loops, and have shown appreciable results in terms of seizure reduction, in particular, in patients presenting gain-of-function mutations. Nowadays, new potentially transformative gene therapy treatment approaches are currently being explored, allowing in the next future, a precisionbased treatment directed against the gene defect and protein alterations.…”
Section: Geneticsmentioning
confidence: 99%