BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

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]
    of 14.