768 related articles for article (PubMed ID: 26565596)
21. Lessons learned from gene identification studies in Mendelian epilepsy disorders.
Hardies K; Weckhuysen S; De Jonghe P; Suls A
Eur J Hum Genet; 2016 Jul; 24(7):961-7. PubMed ID: 26603999
[TBL] [Abstract][Full Text] [Related]
22. Genetic causes of rare and common epilepsies: What should the epileptologist know?
Lesca G; Baumgartner T; Monin P; De Dominicis A; Kunz WS; Specchio N
Eur J Med Genet; 2022 Sep; 65(9):104570. PubMed ID: 35850153
[TBL] [Abstract][Full Text] [Related]
23. Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
He N; Lin ZJ; Wang J; Wei F; Meng H; Liu XR; Chen Q; Su T; Shi YW; Yi YH; Liao WP
Genet Med; 2019 Jan; 21(1):17-27. PubMed ID: 29895856
[TBL] [Abstract][Full Text] [Related]
24. Epilepsy genetics: the ongoing revolution.
Lesca G; Depienne C
Rev Neurol (Paris); 2015; 171(6-7):539-57. PubMed ID: 26003806
[TBL] [Abstract][Full Text] [Related]
25. The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.
Arnaud L; Abi Warde MT; Barcia G; de Bellescize J; Chatron N; Faoucher M; de Saint Martin A; Héron D; Jedraszak G; Lacoste C; Lèbre AS; Jenneson-Lyver M; Labalme A; Leguern E; Mignot C; Milh M; Nabbout R; Nava C; Panagiotakaki E; Piton A; Schaefer E; Thevenon J; Villard L; Ville D; Lesca G
Eur J Med Genet; 2022 Mar; 65(3):104445. PubMed ID: 35091117
[TBL] [Abstract][Full Text] [Related]
26. The role of genetic testing in epilepsy diagnosis and management.
Weber YG; Biskup S; Helbig KL; Von Spiczak S; Lerche H
Expert Rev Mol Diagn; 2017 Aug; 17(8):739-750. PubMed ID: 28548558
[TBL] [Abstract][Full Text] [Related]
27. The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies.
Nicita F; De Liso P; Danti FR; Papetti L; Ursitti F; Castronovo A; Allemand F; Gennaro E; Zara F; Striano P; Spalice A
Seizure; 2012 Jan; 21(1):3-11. PubMed ID: 21917483
[TBL] [Abstract][Full Text] [Related]
28. Genetic Testing in Pediatric Epilepsy.
Sands TT; Choi H
Curr Neurol Neurosci Rep; 2017 May; 17(5):45. PubMed ID: 28405954
[TBL] [Abstract][Full Text] [Related]
29. Recent advances in epilepsy genomics and genetic testing.
Hebbar M; Mefford HC
F1000Res; 2020; 9():. PubMed ID: 32201576
[TBL] [Abstract][Full Text] [Related]
30. ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Oates S; Absoud M; Goyal S; Bayley S; Baulcomb J; Sims A; Riddett A; Allis K; Brasch-Andersen C; Balasubramanian M; Bai R; Callewaert B; Hüffmeier U; Le Duc D; Radtke M; Korff C; Kennedy J; Low K; Møller RS; Nielsen JEK; Popp B; Quteineh L; Rønde G; Schönewolf-Greulich B; Shillington A; Taylor MR; Todd E; Torring PM; Tümer Z; Vasileiou G; Yates TM; Zweier C; Rosch R; Basson MA; Pal DK
Clin Genet; 2021 Oct; 100(4):412-429. PubMed ID: 34216016
[TBL] [Abstract][Full Text] [Related]
31. Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.
Komulainen-Ebrahim J; Schreiber JM; Kangas SM; Pylkäs K; Suo-Palosaari M; Rahikkala E; Liinamaa J; Immonen EV; Hassinen I; Myllynen P; Rantala H; Hinttala R; Uusimaa J
Seizure; 2019 Jul; 69():99-104. PubMed ID: 31004928
[TBL] [Abstract][Full Text] [Related]
32. Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel.
Hesse AN; Bevilacqua J; Shankar K; Reddi HV
Epilepsy Res; 2018 Aug; 144():53-61. PubMed ID: 29778030
[TBL] [Abstract][Full Text] [Related]
33. Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists.
McTague A; Brunklaus A; Barcia G; Varadkar S; Zuberi SM; Chatron N; Parrini E; Mei D; Nabbout R; Lesca G
Eur J Med Genet; 2022 Jul; 65(7):104531. PubMed ID: 35618197
[TBL] [Abstract][Full Text] [Related]
34. Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.
Horák O; Burešová M; Kolář S; Španělová K; Jeřábková B; Gaillyová R; Česká K; Réblová K; Šoukalová J; Zídková J; Fajkusová L; Ošlejšková H; Rektor I; Danhofer P
Epilepsy Behav; 2022 Mar; 128():108564. PubMed ID: 35065395
[TBL] [Abstract][Full Text] [Related]
35. Customized multigene panels in epilepsy: the best things come in small packages.
Pellacani S; Dosi C; Valvo G; Moro F; Mero S; Sicca F; Santorelli FM
Neurogenetics; 2020 Jan; 21(1):1-18. PubMed ID: 31834528
[TBL] [Abstract][Full Text] [Related]
36. Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.
Costain G; Cordeiro D; Matviychuk D; Mercimek-Andrews S
Neuroscience; 2019 Oct; 418():291-310. PubMed ID: 31487502
[TBL] [Abstract][Full Text] [Related]
37. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
;
Am J Hum Genet; 2021 Jun; 108(6):965-982. PubMed ID: 33932343
[TBL] [Abstract][Full Text] [Related]
38. Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era.
Calhoun JD; Carvill GL
J Neurogenet; 2018 Dec; 32(4):295-312. PubMed ID: 30247086
[TBL] [Abstract][Full Text] [Related]
39. Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah M; Shanks M; Packham E; Williams J; Haysmoore J; MacLaren RE; Németh AH; Clouston P; Downes SM
Ophthalmic Genet; 2020 Aug; 41(4):331-337. PubMed ID: 32543920
[TBL] [Abstract][Full Text] [Related]
40. An Objective Method for Evaluating Next-Generation Sequencing Panels.
Angione K; Gibbons M; Demarest S
J Child Neurol; 2019 Mar; 34(3):139-143. PubMed ID: 30569809
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]