279 related articles for article (PubMed ID: 27323938)
1. Genetic investigations of the epileptic encephalopathies: Recent advances.
Myers CT; Mefford HC
Prog Brain Res; 2016; 226():35-60. PubMed ID: 27323938
[TBL] [Abstract][Full Text] [Related]
2. The contribution of next generation sequencing to epilepsy genetics.
Møller RS; Dahl HA; Helbig I
Expert Rev Mol Diagn; 2015; 15(12):1531-8. PubMed ID: 26565596
[TBL] [Abstract][Full Text] [Related]
3. Advancing epilepsy genetics in the genomic era.
Myers CT; Mefford HC
Genome Med; 2015 Aug; 7(1):91. PubMed ID: 26302787
[TBL] [Abstract][Full Text] [Related]
4. Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.
Patel J; Mercimek-Mahmutoglu S
Indian J Pediatr; 2016 Oct; 83(10):1164-74. PubMed ID: 26821542
[TBL] [Abstract][Full Text] [Related]
5. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
Ohba C; Shiina M; Tohyama J; Haginoya K; Lerman-Sagie T; Okamoto N; Blumkin L; Lev D; Mukaida S; Nozaki F; Uematsu M; Onuma A; Kodera H; Nakashima M; Tsurusaki Y; Miyake N; Tanaka F; Kato M; Ogata K; Saitsu H; Matsumoto N
Epilepsia; 2015 Jun; 56(6):841-8. PubMed ID: 25864721
[TBL] [Abstract][Full Text] [Related]
6. Models for discovery of targeted therapy in genetic epileptic encephalopathies.
Maljevic S; Reid CA; Petrou S
J Neurochem; 2017 Oct; 143(1):30-48. PubMed ID: 28742937
[TBL] [Abstract][Full Text] [Related]
7. Recent advances in epilepsy genomics and genetic testing.
Hebbar M; Mefford HC
F1000Res; 2020; 9():. PubMed ID: 32201576
[TBL] [Abstract][Full Text] [Related]
8. Epilepsy genetics: Current knowledge, applications, and future directions.
Myers KA; Johnstone DL; Dyment DA
Clin Genet; 2019 Jan; 95(1):95-111. PubMed ID: 29992546
[TBL] [Abstract][Full Text] [Related]
9. GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay.
Williams A; Cooney E; Segal G; Narayanan S; Morand M; Agadi S
Am J Med Genet A; 2022 Dec; 188(12):3546-3549. PubMed ID: 36121006
[TBL] [Abstract][Full Text] [Related]
10. A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy.
Chen X; Jin J; Wang Q; Xue H; Zhang N; Du Y; Zhang T; Zhang B; Wu J; Liu Z
Hum Mutat; 2019 Mar; 40(3):281-287. PubMed ID: 30488659
[TBL] [Abstract][Full Text] [Related]
11. De novo KCNB1 mutations in epileptic encephalopathy.
Torkamani A; Bersell K; Jorge BS; Bjork RL; Friedman JR; Bloss CS; Cohen J; Gupta S; Naidu S; Vanoye CG; George AL; Kearney JA
Ann Neurol; 2014 Oct; 76(4):529-540. PubMed ID: 25164438
[TBL] [Abstract][Full Text] [Related]
12. De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella I; McKenzie MB; Evans DM; Buerki SE; Toyota EB; Van Allen MI; ; Suri M; Elmslie F; ; Simon MEH; van Gassen KLI; Héron D; Keren B; Nava C; Connolly MB; Demos M; Farrer MJ
Am J Hum Genet; 2017 Aug; 101(2):300-310. PubMed ID: 28777935
[TBL] [Abstract][Full Text] [Related]
13. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF; Myers CT; Cossette P; Lemay P; Spiegelman D; Laporte AD; Nassif C; Diallo O; Monlong J; Cadieux-Dion M; Dobrzeniecka S; Meloche C; Retterer K; Cho MT; Rosenfeld JA; Bi W; Massicotte C; Miguet M; Brunga L; Regan BM; Mo K; Tam C; Schneider A; Hollingsworth G; ; FitzPatrick DR; Donaldson A; Canham N; Blair E; Kerr B; Fry AE; Thomas RH; Shelagh J; Hurst JA; Brittain H; Blyth M; Lebel RR; Gerkes EH; Davis-Keppen L; Stein Q; Chung WK; Dorison SJ; Benke PJ; Fassi E; Corsten-Janssen N; Kamsteeg EJ; Mau-Them FT; Bruel AL; Verloes A; Õunap K; Wojcik MH; Albert DVF; Venkateswaran S; Ware T; Jones D; Liu YC; Mohammad SS; Bizargity P; Bacino CA; Leuzzi V; Martinelli S; Dallapiccola B; Tartaglia M; Blumkin L; Wierenga KJ; Purcarin G; O'Byrne JJ; Stockler S; Lehman A; Keren B; Nougues MC; Mignot C; Auvin S; Nava C; Hiatt SM; Bebin M; Shao Y; Scaglia F; Lalani SR; Frye RE; Jarjour IT; Jacques S; Boucher RM; Riou E; Srour M; Carmant L; Lortie A; Major P; Diadori P; Dubeau F; D'Anjou G; Bourque G; Berkovic SF; Sadleir LG; Campeau PM; Kibar Z; Lafrenière RG; Girard SL; Mercimek-Mahmutoglu S; Boelman C; Rouleau GA; Scheffer IE; Mefford HC; Andrade DM; Rossignol E; Minassian BA; Michaud JL
Am J Hum Genet; 2017 Nov; 101(5):664-685. PubMed ID: 29100083
[TBL] [Abstract][Full Text] [Related]
14. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
Epi4K Consortium
Am J Hum Genet; 2016 Aug; 99(2):287-98. PubMed ID: 27476654
[TBL] [Abstract][Full Text] [Related]
15. Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics.
Chang YT; Hong SY; Lin WD; Lin CH; Lin SS; Tsai FJ; Chou IC
Children (Basel); 2023 Mar; 10(3):. PubMed ID: 36980114
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Genetics of epilepsy.
Nolan D; Fink J
Handb Clin Neurol; 2018; 148():467-491. PubMed ID: 29478594
[TBL] [Abstract][Full Text] [Related]
18. From next-generation sequencing to targeted treatment of non-acquired epilepsies.
Møller RS; Hammer TB; Rubboli G; Lemke JR; Johannesen KM
Expert Rev Mol Diagn; 2019 Mar; 19(3):217-228. PubMed ID: 30661434
[TBL] [Abstract][Full Text] [Related]
19. 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 Jun; ():. PubMed ID: 38923778
[TBL] [Abstract][Full Text] [Related]
20. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Mercimek-Mahmutoglu S; Patel J; Cordeiro D; Hewson S; Callen D; Donner EJ; Hahn CD; Kannu P; Kobayashi J; Minassian BA; Moharir M; Siriwardena K; Weiss SK; Weksberg R; Snead OC
Epilepsia; 2015 May; 56(5):707-16. PubMed ID: 25818041
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]