These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine. Foster LA; Johnson MR; MacDonald JT; Karachunski PI; Henry TR; Nascene DR; Moran BP; Raymond GV Pediatr Neurol; 2017 Jan; 66():108-111. PubMed ID: 27867041 [TBL] [Abstract][Full Text] [Related]
4. The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy. Kim HJ; Yang D; Kim SH; Kim B; Kim HD; Lee JS; Choi JR; Lee ST; Kang HC Epileptic Disord; 2020 Oct; 22(5):563-570. PubMed ID: 33000761 [TBL] [Abstract][Full Text] [Related]
5. SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet. Su DJ; Lu JF; Lin LJ; Liang JS; Hung KL Brain Dev; 2018 Sep; 40(8):724-727. PubMed ID: 29625812 [TBL] [Abstract][Full Text] [Related]
6. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Wolff M; Johannesen KM; Hedrich UBS; Masnada S; Rubboli G; Gardella E; Lesca G; Ville D; Milh M; Villard L; Afenjar A; Chantot-Bastaraud S; Mignot C; Lardennois C; Nava C; Schwarz N; Gérard M; Perrin L; Doummar D; Auvin S; Miranda MJ; Hempel M; Brilstra E; Knoers N; Verbeek N; van Kempen M; Braun KP; Mancini G; Biskup S; Hörtnagel K; Döcker M; Bast T; Loddenkemper T; Wong-Kisiel L; Baumeister FM; Fazeli W; Striano P; Dilena R; Fontana E; Zara F; Kurlemann G; Klepper J; Thoene JG; Arndt DH; Deconinck N; Schmitt-Mechelke T; Maier O; Muhle H; Wical B; Finetti C; Brückner R; Pietz J; Golla G; Jillella D; Linnet KM; Charles P; Moog U; Õiglane-Shlik E; Mantovani JF; Park K; Deprez M; Lederer D; Mary S; Scalais E; Selim L; Van Coster R; Lagae L; Nikanorova M; Hjalgrim H; Korenke GC; Trivisano M; Specchio N; Ceulemans B; Dorn T; Helbig KL; Hardies K; Stamberger H; de Jonghe P; Weckhuysen S; Lemke JR; Krägeloh-Mann I; Helbig I; Kluger G; Lerche H; Møller RS Brain; 2017 May; 140(5):1316-1336. PubMed ID: 28379373 [TBL] [Abstract][Full Text] [Related]
7. Ketogenic diet as a successful early treatment modality for SCN2A mutation. Turkdogan D; Thomas G; Demirel B Brain Dev; 2019 Apr; 41(4):389-391. PubMed ID: 30415926 [TBL] [Abstract][Full Text] [Related]
8. [Phenotype study of SCN2A gene related epilepsy]. Zeng Q; Zhang YH; Yang XL; Zhang J; Liu AJ; Liu XY; Jiang YW; Wu XR Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):518-523. PubMed ID: 29996185 [No Abstract] [Full Text] [Related]
9. Mutations in SCN3A cause early infantile epileptic encephalopathy. Zaman T; Helbig I; Božović IB; DeBrosse SD; Bergqvist AC; Wallis K; Medne L; Maver A; Peterlin B; Helbig KL; Zhang X; Goldberg EM Ann Neurol; 2018 Apr; 83(4):703-717. PubMed ID: 29466837 [TBL] [Abstract][Full Text] [Related]
10. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. Howell KB; McMahon JM; Carvill GL; Tambunan D; Mackay MT; Rodriguez-Casero V; Webster R; Clark D; Freeman JL; Calvert S; Olson HE; Mandelstam S; Poduri A; Mefford HC; Harvey AS; Scheffer IE Neurology; 2015 Sep; 85(11):958-66. PubMed ID: 26291284 [TBL] [Abstract][Full Text] [Related]
11. Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy. Dilena R; Striano P; Gennaro E; Bassi L; Olivotto S; Tadini L; Mosca F; Barbieri S; Zara F; Fumagalli M Brain Dev; 2017 Apr; 39(4):345-348. PubMed ID: 27876397 [TBL] [Abstract][Full Text] [Related]
12. Yang XR; Ginjupalli VKM; Theriault O; Poulin H; Appendino JP; Au PYB; Chahine M J Neurophysiol; 2022 May; 127(5):1388-1397. PubMed ID: 35417276 [TBL] [Abstract][Full Text] [Related]
13. Use of a personalized phenytoin dosing approach to manage difficult to control seizures in an infant with a SCN2A mutation. Welzel T; Ziesenitz VC; Waldvogel S; Scheidegger S; Weber P; van den Anker JN; Gotta V Eur J Clin Pharmacol; 2019 May; 75(5):737-739. PubMed ID: 30643928 [No Abstract] [Full Text] [Related]
14. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Brunklaus A; Du J; Steckler F; Ghanty II; Johannesen KM; Fenger CD; Schorge S; Baez-Nieto D; Wang HR; Allen A; Pan JQ; Lerche H; Heyne H; Symonds JD; Zuberi SM; Sanders S; Sheidley BR; Craiu D; Olson HE; Weckhuysen S; DeJonge P; Helbig I; Van Esch H; Busa T; Milh M; Isidor B; Depienne C; Poduri A; Campbell AJ; Dimidschstein J; Møller RS; Lal D Epilepsia; 2020 Mar; 61(3):387-399. PubMed ID: 32090326 [TBL] [Abstract][Full Text] [Related]
15. A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy. Penkl A; Reunert J; Debus OM; Homann A; Och U; Rust S; Marquardt T Am J Med Genet A; 2022 Mar; 188(3):941-947. PubMed ID: 34874093 [TBL] [Abstract][Full Text] [Related]
16. [Analysis of the efficacy and influencing factors of sodium channel blockers in the treatment of focal epilepsy in infants under 6 months of age]. Ma YP; Deng J; Fu ZR; Chen CH; Wang XH; Wang X; Weng JW; Shen YH Zhonghua Er Ke Za Zhi; 2023 Nov; 61(11):983-988. PubMed ID: 37899337 [No Abstract] [Full Text] [Related]
17. Lacosamide in patients with intellectual disability and refractory epilepsy. Kleist A; Kerling F; Hamer H; Winterholler M Acta Neurol Belg; 2019 Sep; 119(3):423-430. PubMed ID: 30840220 [TBL] [Abstract][Full Text] [Related]
18. Confirming an expanded spectrum of SCN2A mutations: a case series. Matalon D; Goldberg E; Medne L; Marsh ED Epileptic Disord; 2014 Mar; 16(1):13-8. PubMed ID: 24659627 [TBL] [Abstract][Full Text] [Related]