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. [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]
4. 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]
5. 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]
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. The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features. Liang JS; Lin LJ; Yang MT; Wang JS; Lu JF Brain Dev; 2017 Nov; 39(10):877-881. PubMed ID: 28709814 [TBL] [Abstract][Full Text] [Related]
8. Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy. Dhamija R; Wirrell E; Falcao G; Kirmani S; Wong-Kisiel LC Pediatr Neurol; 2013 Dec; 49(6):486-8. PubMed ID: 23988467 [TBL] [Abstract][Full Text] [Related]
9. Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome? Lim BC; Hwang H; Kim H; Chae JH; Choi J; Kim KJ; Hwang YS; Yum MS; Ko TS Epilepsy Res; 2015 Jan; 109():34-9. PubMed ID: 25524840 [TBL] [Abstract][Full Text] [Related]
10. Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures. Saitoh M; Ishii A; Ihara Y; Hoshino A; Terashima H; Kubota M; Kikuchi K; Yamanaka G; Amemiya K; Hirose S; Mizuguchi M Epilepsy Res; 2015 Nov; 117():1-6. PubMed ID: 26311622 [TBL] [Abstract][Full Text] [Related]
11. Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of Berecki G; Howell KB; Deerasooriya YH; Cilio MR; Oliva MK; Kaplan D; Scheffer IE; Berkovic SF; Petrou S Proc Natl Acad Sci U S A; 2018 Jun; 115(24):E5516-E5525. PubMed ID: 29844171 [TBL] [Abstract][Full Text] [Related]
12. 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]
14. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. Baasch AL; Hüning I; Gilissen C; Klepper J; Veltman JA; Gillessen-Kaesbach G; Hoischen A; Lohmann K Epilepsia; 2014 Apr; 55(4):e25-9. PubMed ID: 24579881 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings. Zerem A; Lev D; Blumkin L; Goldberg-Stern H; Michaeli-Yossef Y; Halevy A; Kivity S; Nakamura K; Matsumoto N; Leshinsky-Silver E; Saitsu H; Lerman-Sagie T Eur J Paediatr Neurol; 2014 Sep; 18(5):567-71. PubMed ID: 24814476 [TBL] [Abstract][Full Text] [Related]
17. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. Zara F; Specchio N; Striano P; Robbiano A; Gennaro E; Paravidino R; Vanni N; Beccaria F; Capovilla G; Bianchi A; Caffi L; Cardilli V; Darra F; Bernardina BD; Fusco L; Gaggero R; Giordano L; Guerrini R; Incorpora G; Mastrangelo M; Spaccini L; Laverda AM; Vecchi M; Vanadia F; Veggiotti P; Viri M; Occhi G; Budetta M; Taglialatela M; Coviello DA; Vigevano F; Minetti C Epilepsia; 2013 Mar; 54(3):425-36. PubMed ID: 23360469 [TBL] [Abstract][Full Text] [Related]
18. The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. Burgess R; Wang S; McTague A; Boysen KE; Yang X; Zeng Q; Myers KA; Rochtus A; Trivisano M; Gill D; ; Sadleir LG; Specchio N; Guerrini R; Marini C; Zhang YH; Mefford HC; Kurian MA; Poduri AH; Scheffer IE Ann Neurol; 2019 Dec; 86(6):821-831. PubMed ID: 31618474 [TBL] [Abstract][Full Text] [Related]
19. Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures. Kong Y; Yan K; Hu L; Wang M; Dong X; Lu Y; Wu B; Wang H; Yang L; Zhou W Clin Chim Acta; 2018 Aug; 483():14-19. PubMed ID: 29649454 [TBL] [Abstract][Full Text] [Related]