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.
221 related articles for article (PubMed ID: 28674986)
1. Epileptic Encephalopathies as Neurodegenerative Disorders. Helbig I; von Deimling M; Marsh ED Adv Neurobiol; 2017; 15():295-315. PubMed ID: 28674986 [TBL] [Abstract][Full Text] [Related]
2. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. Tran Mau-Them F; Guibaud L; Duplomb L; Keren B; Lindstrom K; Marey I; Mochel F; van den Boogaard MJ; Oegema R; Nava C; Masurel A; Jouan T; Jansen FE; Au M; Chen AH; Cho M; Duffourd Y; Lozier E; Konovalov F; Sharkov A; Korostelev S; Urteaga B; Dickson P; Vera M; Martínez-Agosto JA; Begemann A; Zweier M; Schmitt-Mechelke T; Rauch A; Philippe C; van Gassen K; Nelson S; Graham JM; Friedman J; Faivre L; Lin HJ; Thauvin-Robinet C; Vitobello A Genet Med; 2019 Apr; 21(4):1008-1014. PubMed ID: 30166628 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
7. Epileptic encephalopathies: new genes and new pathways. Nieh SE; Sherr EH Neurotherapeutics; 2014 Oct; 11(4):796-806. PubMed ID: 25266964 [TBL] [Abstract][Full Text] [Related]
8. Genetic epileptic encephalopathies: is all written into the DNA? Striano P; de Jonghe P; Zara F Epilepsia; 2013 Nov; 54 Suppl 8():22-6. PubMed ID: 24571113 [TBL] [Abstract][Full Text] [Related]
9. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies. Manivannan SN; Roovers J; Smal N; Myers CT; Turkdogan D; Roelens F; Kanca O; Chung HL; Scholz T; Hermann K; Bierhals T; Caglayan HS; Stamberger H; ; Mefford H; de Jonghe P; Yamamoto S; Weckhuysen S; Bellen HJ Brain; 2022 Jun; 145(5):1684-1697. PubMed ID: 34788397 [TBL] [Abstract][Full Text] [Related]
10. The spectrum of SCN1A-related infantile epileptic encephalopathies. Harkin LA; McMahon JM; Iona X; Dibbens L; Pelekanos JT; Zuberi SM; Sadleir LG; Andermann E; Gill D; Farrell K; Connolly M; Stanley T; Harbord M; Andermann F; Wang J; Batish SD; Jones JG; Seltzer WK; Gardner A; ; Sutherland G; Berkovic SF; Mulley JC; Scheffer IE Brain; 2007 Mar; 130(Pt 3):843-52. PubMed ID: 17347258 [TBL] [Abstract][Full Text] [Related]
11. Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights. Ng AC; Chahine M; Scantlebury MH; Appendino JP J Neurol; 2024 Jun; 271(6):3063-3094. PubMed ID: 38607431 [TBL] [Abstract][Full Text] [Related]
15. Understanding Genotypes and Phenotypes in Epileptic Encephalopathies. Helbig I; Tayoun AA Mol Syndromol; 2016 Sep; 7(4):172-181. PubMed ID: 27781027 [TBL] [Abstract][Full Text] [Related]
16. [Myoclonus and epilepsies in children]. Fejerman N Rev Neurol (Paris); 1991; 147(12):782-97. PubMed ID: 1780607 [TBL] [Abstract][Full Text] [Related]
17. WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation. Serin HM; Simsek E; Isik E; Gokben S Neurol Sci; 2018 Nov; 39(11):1977-1980. PubMed ID: 30094525 [TBL] [Abstract][Full Text] [Related]
18. Developmental and epileptic encephalopathies: what we do and do not know. Specchio N; Curatolo P Brain; 2021 Feb; 144(1):32-43. PubMed ID: 33279965 [TBL] [Abstract][Full Text] [Related]
19. Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor? Routier L; Verny F; Barcia G; Chemaly N; Desguerre I; Colleaux L; Nabbout R Clin Genet; 2019 Sep; 96(3):254-260. PubMed ID: 31170314 [TBL] [Abstract][Full Text] [Related]
20. Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts. von Deimling M; Helbig I; Marsh ED Curr Neurol Neurosci Rep; 2017 Feb; 17(2):10. PubMed ID: 28229394 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]