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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

1202 related articles for article (PubMed ID: 29314583)

  • 1. 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]  

  • 2. 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]  

  • 3. Novel and de novo mutations in pediatric refractory epilepsy.
    Liu J; Tong L; Song S; Niu Y; Li J; Wu X; Zhang J; Zai CC; Luo F; Wu J; Li H; Wong AHC; Sun R; Liu F; Li B
    Mol Brain; 2018 Sep; 11(1):48. PubMed ID: 30185235
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.
    Na JH; Shin S; Yang D; Kim B; Kim HD; Kim S; Lee JS; Choi JR; Lee ST; Kang HC
    Brain Dev; 2020 Jun; 42(6):438-448. PubMed ID: 32139178
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features.
    Liang JS; Lin LJ; Yang MT; Wang JS; Lu JF
    Brain Dev; 2017 Nov; 39(10):877-881. PubMed ID: 28709814
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
    Lee J; Lee C; Ki CS; Lee J
    Mol Genet Genomic Med; 2020 Sep; 8(9):e1376. PubMed ID: 32613771
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.
    Mei D; Cetica V; Marini C; Guerrini R
    Epilepsia; 2019 Dec; 60 Suppl 3():S2-S7. PubMed ID: 31904125
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
    Mitta N; Menon RN; McTague A; Radhakrishnan A; Sundaram S; Cherian A; Madhavilatha GK; Mannan AU; Nampoothiri S; Thomas SV
    Epilepsy Res; 2020 Oct; 166():106398. PubMed ID: 32593896
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy.
    Ko A; Youn SE; Kim SH; Lee JS; Kim S; Choi JR; Kim HD; Lee ST; Kang HC
    Epilepsy Res; 2018 Mar; 141():48-55. PubMed ID: 29455050
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.
    Holland KD; Bouley TM; Horn PS
    Epilepsia; 2017 Jul; 58(7):1190-1198. PubMed ID: 28518218
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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. Dravet syndrome and its mimics: Beyond SCN1A.
    Steel D; Symonds JD; Zuberi SM; Brunklaus A
    Epilepsia; 2017 Nov; 58(11):1807-1816. PubMed ID: 28880996
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome.
    Jiang T; Shen Y; Chen H; Yuan Z; Mao S; Gao F
    Medicine (Baltimore); 2018 Dec; 97(50):e13565. PubMed ID: 30558019
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies.
    Luiza Benevides M; de Moraes HT; Granados DMM; Bonadia LC; Sauma L; Augusta Montenegro M; Guerreiro MM; Lopes-Cendes Í; Carolina Coan A
    Epilepsy Behav; 2024 Jun; 155():109762. PubMed ID: 38636144
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.
    Wang J; Wen Y; Zhang Q; Yu S; Chen Y; Wu X; Zhang Y; Bao X
    Seizure; 2019 Mar; 66():26-30. PubMed ID: 30776697
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. [Infantile epileptic encephalopathies: what matters is genetics].
    Garcia-Penas JJ; Jimenez-Legido M
    Rev Neurol; 2017 May; 64(s03):S65-S69. PubMed ID: 28524223
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 61.