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 *

256 related articles for article (PubMed ID: 28254201)

  • 1. Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.
    Bernardo S; Marchionni E; Prudente S; De Liso P; Spalice A; Giancotti A; Manganaro L; Pizzuti A
    Eur J Paediatr Neurol; 2017 May; 21(3):587-590. PubMed ID: 28254201
    [TBL] [Abstract][Full Text] [Related]  

  • 2. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
    Howell KB; McMahon JM; Carvill GL; Tambunan D; Mackay MT; Rodriguez-Casero V; Webster R; Clark D; Freeman JL; Calvert S; Olson HE; Mandelstam S; Poduri A; Mefford HC; Harvey AS; Scheffer IE
    Neurology; 2015 Sep; 85(11):958-66. PubMed ID: 26291284
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
    Baasch AL; Hüning I; Gilissen C; Klepper J; Veltman JA; Gillessen-Kaesbach G; Hoischen A; Lohmann K
    Epilepsia; 2014 Apr; 55(4):e25-9. PubMed ID: 24579881
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.
    Dilena R; Striano P; Gennaro E; Bassi L; Olivotto S; Tadini L; Mosca F; Barbieri S; Zara F; Fumagalli M
    Brain Dev; 2017 Apr; 39(4):345-348. PubMed ID: 27876397
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neonatal SCN2A encephalopathy: A peculiar recognizable electroclinical sequence.
    Melikishvili G; Dulac O; Gataullina S
    Epilepsy Behav; 2020 Oct; 111():107187. PubMed ID: 32603808
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Phenotype study of SCN2A gene related epilepsy].
    Zeng Q; Zhang YH; Yang XL; Zhang J; Liu AJ; Liu XY; Jiang YW; Wu XR
    Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):518-523. PubMed ID: 29996185
    [No Abstract]   [Full Text] [Related]  

  • 8.
    Vlachou V; Larsen L; Pavlidou E; Ismayilova N; Mazarakis ND; Scala M; Pantazi M; Mankad K; Kinali M
    J Genet; 2019 Jun; 98(2):. PubMed ID: 31204721
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.
    Saitoh M; Ishii A; Ihara Y; Hoshino A; Terashima H; Kubota M; Kikuchi K; Yamanaka G; Amemiya K; Hirose S; Mizuguchi M
    Epilepsy Res; 2015 Nov; 117():1-6. PubMed ID: 26311622
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Acute encephalopathy with a novel point mutation in the SCN2A gene.
    Kobayashi K; Ohzono H; Shinohara M; Saitoh M; Ohmori I; Ohtsuka Y; Mizuguchi M
    Epilepsy Res; 2012 Nov; 102(1-2):109-12. PubMed ID: 22591750
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.
    Su DJ; Lu JF; Lin LJ; Liang JS; Hung KL
    Brain Dev; 2018 Sep; 40(8):724-727. PubMed ID: 29625812
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
    Nakamura K; Kato M; Osaka H; Yamashita S; Nakagawa E; Haginoya K; Tohyama J; Okuda M; Wada T; Shimakawa S; Imai K; Takeshita S; Ishiwata H; Lev D; Lerman-Sagie T; Cervantes-Barragán DE; Villarroel CE; Ohfu M; Writzl K; Gnidovec Strazisar B; Hirabayashi S; Chitayat D; Myles Reid D; Nishiyama K; Kodera H; Nakashima M; Tsurusaki Y; Miyake N; Hayasaka K; Matsumoto N; Saitsu H
    Neurology; 2013 Sep; 81(11):992-8. PubMed ID: 23935176
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
    Hackenberg A; Baumer A; Sticht H; Schmitt B; Kroell-Seger J; Wille D; Joset P; Papuc S; Rauch A; Plecko B
    Neuropediatrics; 2014 Aug; 45(4):261-4. PubMed ID: 24710820
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Infantile Epileptic Encephalopathy Associated With SCN2A Mutation Responsive to Oral Mexiletine.
    Foster LA; Johnson MR; MacDonald JT; Karachunski PI; Henry TR; Nascene DR; Moran BP; Raymond GV
    Pediatr Neurol; 2017 Jan; 66():108-111. PubMed ID: 27867041
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of
    Berecki G; Howell KB; Deerasooriya YH; Cilio MR; Oliva MK; Kaplan D; Scheffer IE; Berkovic SF; Petrou S
    Proc Natl Acad Sci U S A; 2018 Jun; 115(24):E5516-E5525. PubMed ID: 29844171
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Confirming an expanded spectrum of SCN2A mutations: a case series.
    Matalon D; Goldberg E; Medne L; Marsh ED
    Epileptic Disord; 2014 Mar; 16(1):13-8. PubMed ID: 24659627
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures.
    Kong Y; Yan K; Hu L; Wang M; Dong X; Lu Y; Wu B; Wang H; Yang L; Zhou W
    Clin Chim Acta; 2018 Aug; 483():14-19. PubMed ID: 29649454
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo SCN2A mutation in a Chinese infant with severe early-onset epileptic encephalopathy, bronchopulmonary dysplasia, and adrenal hypofunction.
    Cheng Y; Zhang L; Huang X; Pei Y; Fan M; Xu L; Gao W; Tang W
    Int J Clin Exp Pathol; 2017; 10(10):10358-10362. PubMed ID: 31966371
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SCN2A and arrhythmia: A potential correlation? A case report and literature review.
    Tzialla C; Arossa A; Mannarino S; Orcesi S; Veggiotti P; Fiandrino G; Zuffardi O; Errichiello E
    Eur J Med Genet; 2022 Dec; 65(12):104639. PubMed ID: 36206969
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A case of recurrent encephalopathy with SCN2A missense mutation.
    Fukasawa T; Kubota T; Negoro T; Saitoh M; Mizuguchi M; Ihara Y; Ishii A; Hirose S
    Brain Dev; 2015 Jun; 37(6):631-4. PubMed ID: 25457084
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.