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.
5. 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]
6. Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders. Berg AT; Thompson CH; Myers LS; Anderson E; Evans L; Kaiser AJE; Paltell K; Nili AN; DeKeyser JL; Abramova TV; Nesbitt G; Egan SM; Vanoye CG; George AL Brain; 2024 Aug; 147(8):2761-2774. PubMed ID: 38651838 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy. Miao P; Tang S; Ye J; Wang J; Lou Y; Zhang B; Xu X; Chen X; Li Y; Feng J Mol Genet Genomic Med; 2020 Jul; 8(7):e1250. PubMed ID: 32400968 [TBL] [Abstract][Full Text] [Related]
9. Opposing Effects on Na Ben-Shalom R; Keeshen CM; Berrios KN; An JY; Sanders SJ; Bender KJ Biol Psychiatry; 2017 Aug; 82(3):224-232. PubMed ID: 28256214 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. The phenotypic spectrum of SCN2A-related epilepsy. Reynolds C; King MD; Gorman KM Eur J Paediatr Neurol; 2020 Jan; 24():117-122. PubMed ID: 31924505 [TBL] [Abstract][Full Text] [Related]
12. Functional correlates of clinical phenotype and severity in recurrent SCN2A variants. Berecki G; Howell KB; Heighway J; Olivier N; Rodda J; Overmars I; Vlaskamp DRM; Ware TL; Ardern-Holmes S; Lesca G; Alber M; Veggiotti P; Scheffer IE; Berkovic SF; Wolff M; Petrou S Commun Biol; 2022 May; 5(1):515. PubMed ID: 35637276 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Hyperexcitability and Pharmacological Responsiveness of Cortical Neurons Derived from Human iPSCs Carrying Epilepsy-Associated Sodium Channel Nav1.2-L1342P Genetic Variant. Que Z; Olivero-Acosta MI; Zhang J; Eaton M; Tukker AM; Chen X; Wu J; Xie J; Xiao T; Wettschurack K; Yunis L; Shafer JM; Schaber JA; Rochet JC; Bowman AB; Yuan C; Huang Z; Hu CD; Trader DJ; Skarnes WC; Yang Y J Neurosci; 2021 Dec; 41(49):10194-10208. PubMed ID: 34716231 [TBL] [Abstract][Full Text] [Related]
16. Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons. Asadollahi R; Delvendahl I; Muff R; Tan G; Rodríguez DG; Turan S; Russo M; Oneda B; Joset P; Boonsawat P; Masood R; Mocera M; Ivanovski I; Baumer A; Bachmann-Gagescu R; Schlapbach R; Rehrauer H; Steindl K; Begemann A; Reis A; Winkler J; Winner B; Müller M; Rauch A Hum Mol Genet; 2023 Jun; 32(13):2192-2204. PubMed ID: 37010102 [TBL] [Abstract][Full Text] [Related]
17. Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond. Wolff M; Brunklaus A; Zuberi SM Epilepsia; 2019 Dec; 60 Suppl 3():S59-S67. PubMed ID: 31904126 [TBL] [Abstract][Full Text] [Related]
18. Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties. Thompson CH; Potet F; Abramova TV; DeKeyser JM; Ghabra NF; Vanoye CG; Millichap JJ; George AL J Gen Physiol; 2023 Oct; 155(10):. PubMed ID: 37578743 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. Differential Functional Changes of Nav1.2 Channel Causing Miao P; Tang S; Ye J; Tang J; Wang J; Zheng C; Li Y; Feng J Front Neurol; 2021; 12():653517. PubMed ID: 34093402 [No Abstract] [Full Text] [Related] [Next] [New Search]