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.
209 related articles for article (PubMed ID: 38148154)
1. Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function Mao M; Mattei C; Rollo B; Byars S; Cuddy C; Berecki G; Heighway J; Pachernegg S; Menheniott T; Apted D; Jia L; Dalby K; Nemiroff A; Mullen S; Reid CA; Maljevic S; Petrou S J Neurosci; 2024 Feb; 44(8):. PubMed ID: 38148154 [No Abstract] [Full Text] [Related]
2. Variant-specific in vitro neuronal network phenotypes and drug sensitivity in SCN2A developmental and epileptic encephalopathy. Jia L; Li M; Pachernegg S; Sedo A; Jancovski N; Burbano LE; Dalby K; Nemiroff A; Reid C; Maljevic S; Petrou S J Neurochem; 2024 Dec; 168(12):3950-3961. PubMed ID: 38544375 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Na Ovchinnikov DA; Jong S; Cuddy C; Scheffer IE; Maljevic S; Petrou S Stem Cell Res; 2023 Sep; 71():103179. PubMed ID: 37597357 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants. Thompson CH; Ben-Shalom R; Bender KJ; George AL J Gen Physiol; 2020 Mar; 152(3):. PubMed ID: 31995133 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gated sodium channel Na Ovchinnikov DA; Jong S; Cuddy C; Dalby K; Devinsky O; Mullen S; Maljevic S; Petrou S Stem Cell Res; 2024 Apr; 76():103367. PubMed ID: 38479087 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice. Echevarria-Cooper DM; Hawkins NA; Misra SN; Huffman AM; Thaxton T; Thompson CH; Ben-Shalom R; Nelson AD; Lipkin AM; George AL; Bender KJ; Kearney JA Hum Mol Genet; 2022 Aug; 31(17):2964-2988. PubMed ID: 35417922 [TBL] [Abstract][Full Text] [Related]
20. Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. Begemann A; Acuña MA; Zweier M; Vincent M; Steindl K; Bachmann-Gagescu R; Hackenberg A; Abela L; Plecko B; Kroell-Seger J; Baumer A; Yamakawa K; Inoue Y; Asadollahi R; Sticht H; Zeilhofer HU; Rauch A Mol Med; 2019 Feb; 25(1):6. PubMed ID: 30813884 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]