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.
164 related articles for article (PubMed ID: 38964184)
1. Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects. Kurekci F; Akif Kilic M; Akbas S; Avci R; Oney C; Dilruba Aslanger A; Maras Genc H; Aydinli N; Pembegul Yildiz E Epilepsy Behav; 2024 Sep; 158():109930. PubMed ID: 38964184 [TBL] [Abstract][Full Text] [Related]
2. 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]
3. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brunklaus A; Brünger T; Feng T; Fons C; Lehikoinen A; Panagiotakaki E; Vintan MA; Symonds J; Andrew J; Arzimanoglou A; Delima S; Gallois J; Hanrahan D; Lesca G; MacLeod S; Marjanovic D; McTague A; Nuñez-Enamorado N; Perez-Palma E; Scott Perry M; Pysden K; Russ-Hall SJ; Scheffer IE; Sully K; Syrbe S; Vaher U; Velayutham M; Vogt J; Weiss S; Wirrell E; Zuberi SM; Lal D; Møller RS; Mantegazza M; Cestèle S Brain; 2022 Nov; 145(11):3816-3831. PubMed ID: 35696452 [TBL] [Abstract][Full Text] [Related]
4. Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population. Dong R; Jin R; Zhang H; Zhang H; Xue M; Li Y; Zhang K; Lv Y; Li X; Liu Y; Gai Z J Hum Genet; 2024 Sep; 69(9):441-453. PubMed ID: 38880818 [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. [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]
8. Genetic Diagnosis of Dravet Syndrome Using Next Generation Sequencing-Based Epilepsy Gene Panel Testing. Lee J; Lee C; Park WY; Lee J Ann Clin Lab Sci; 2020 Sep; 50(5):625-637. PubMed ID: 33067208 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Zhou P; He N; Zhang JW; Lin ZJ; Wang J; Yan LM; Meng H; Tang B; Li BM; Liu XR; Shi YW; Zhai QX; Yi YH; Liao WP Genes Brain Behav; 2018 Nov; 17(8):e12456. PubMed ID: 29314583 [TBL] [Abstract][Full Text] [Related]
11. Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+). Ma H; Guo Y; Chen Z; Wang L; Tang Z; Zhang J; Miao Q; Zhai Q Seizure; 2021 May; 88():146-152. PubMed ID: 33895391 [TBL] [Abstract][Full Text] [Related]
13. Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication. Matricardi S; Cestèle S; Trivisano M; Kassabian B; Leroudier N; Vittorini R; Nosadini M; Cesaroni E; Siliquini S; Marinaccio C; Longaretti F; Podestà B; Operto FF; Luisi C; Sartori S; Boniver C; Specchio N; Vigevano F; Marini C; Mantegazza M Epilepsia; 2023 May; 64(5):1331-1347. PubMed ID: 36636894 [TBL] [Abstract][Full Text] [Related]
14. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications. Johannesen KM; Liu Y; Koko M; Gjerulfsen CE; Sonnenberg L; Schubert J; Fenger CD; Eltokhi A; Rannap M; Koch NA; Lauxmann S; Krüger J; Kegele J; Canafoglia L; Franceschetti S; Mayer T; Rebstock J; Zacher P; Ruf S; Alber M; Sterbova K; Lassuthová P; Vlckova M; Lemke JR; Platzer K; Krey I; Heine C; Wieczorek D; Kroell-Seger J; Lund C; Klein KM; Au PYB; Rho JM; Ho AW; Masnada S; Veggiotti P; Giordano L; Accorsi P; Hoei-Hansen CE; Striano P; Zara F; Verhelst H; Verhoeven JS; Braakman HMH; van der Zwaag B; Harder AVE; Brilstra E; Pendziwiat M; Lebon S; Vaccarezza M; Le NM; Christensen J; Grønborg S; Scherer SW; Howe J; Fazeli W; Howell KB; Leventer R; Stutterd C; Walsh S; Gerard M; Gerard B; Matricardi S; Bonardi CM; Sartori S; Berger A; Hoffman-Zacharska D; Mastrangelo M; Darra F; Vøllo A; Motazacker MM; Lakeman P; Nizon M; Betzler C; Altuzarra C; Caume R; Roubertie A; Gélisse P; Marini C; Guerrini R; Bilan F; Tibussek D; Koch-Hogrebe M; Perry MS; Ichikawa S; Dadali E; Sharkov A; Mishina I; Abramov M; Kanivets I; Korostelev S; Kutsev S; Wain KE; Eisenhauer N; Wagner M; Savatt JM; Müller-Schlüter K; Bassan H; Borovikov A; Nassogne MC; Destrée A; Schoonjans AS; Meuwissen M; Buzatu M; Jansen A; Scalais E; Srivastava S; Tan WH; Olson HE; Loddenkemper T; Poduri A; Helbig KL; Helbig I; Fitzgerald MP; Goldberg EM; Roser T; Borggraefe I; Brünger T; May P; Lal D; Lederer D; Rubboli G; Heyne HO; Lesca G; Hedrich UBS; Benda J; Gardella E; Lerche H; Møller RS Brain; 2022 Sep; 145(9):2991-3009. PubMed ID: 34431999 [TBL] [Abstract][Full Text] [Related]
15. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum. Bonardi CM; Heyne HO; Fiannacca M; Fitzgerald MP; Gardella E; Gunning B; Olofsson K; Lesca G; Verbeek N; Stamberger H; Striano P; Zara F; Mancardi MM; Nava C; Syrbe S; Buono S; Baulac S; Coppola A; Weckhuysen S; Schoonjans AS; Ceulemans B; Sarret C; Baumgartner T; Muhle H; Portes VD; Toulouse J; Nougues MC; Rossi M; Demarquay G; Ville D; Hirsch E; Maurey H; Willems M; de Bellescize J; Altuzarra CD; Villeneuve N; Bartolomei F; Picard F; Hornemann F; Koolen DA; Kroes HY; Reale C; Fenger CD; Tan WH; Dibbens L; Bearden DR; Møller RS; Rubboli G Brain; 2021 Dec; 144(12):3635-3650. PubMed ID: 34114611 [TBL] [Abstract][Full Text] [Related]
16. A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India. Murthy MC; Banerjee B; Shetty M; Mariappan M; Sekhsaria A Epileptic Disord; 2024 Oct; 26(5):609-625. PubMed ID: 38923778 [TBL] [Abstract][Full Text] [Related]
20. Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children. Fang ZX; Hong SQ; Li TS; Wang J; Xie LL; Han W; Jiang L Neuroreport; 2019 Jun; 30(9):671-680. PubMed ID: 31009440 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]