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 *

164 related articles for article (PubMed ID: 35711923)

  • 1. Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the
    Sharkov A; Sparber P; Stepanova A; Pyankov D; Korostelev S; Skoblov M
    Front Genet; 2022; 13():888481. PubMed ID: 35711923
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Beyond Dravet Syndrome: Characterization of a Novel, More Severe SCN1A-Linked Epileptic Encephalopathy.
    Beck VC; Hull JM; Isom LL
    Epilepsy Curr; 2019; 19(4):266-268. PubMed ID: 31257984
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. SCN2A Pathogenic Variants and Epilepsy: Heterogeneous Clinical, Genetic and Diagnostic Features.
    Epifanio R; Giorda R; Merlano MC; Zanotta N; Romaniello R; Marelli S; Russo S; Cogliati F; Bassi MT; Zucca C
    Brain Sci; 2021 Dec; 12(1):. PubMed ID: 35053762
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.
    Hawkins NA; Martin MS; Frankel WN; Kearney JA; Escayg A
    Neurobiol Dis; 2011 Mar; 41(3):655-60. PubMed ID: 21156207
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [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]  

  • 10. Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients.
    Fang H; Hu W; Kang Q; Kuang X; Wang L; Zhang X; Liao H; Yang L; Yang H; Jiang Z; Wu L
    Front Neurol; 2023; 14():1310419. PubMed ID: 38174099
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
    Ding J; Wang L; Jin Z; Qiang Y; Li W; Wang Y; Zhu C; Jiang S; Xiao L; Hao X; Hu X; Li X; Wang F; Sun T
    Front Neurol; 2022; 13():832380. PubMed ID: 35359639
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.
    Sparber P; Mikhaylova S; Galkina V; Itkis Y; Skoblov M
    Front Neurol; 2021; 12():761892. PubMed ID: 34938262
    [TBL] [Abstract][Full Text] [Related]  

  • 13.
    Zeng Q; Yang Y; Duan J; Niu X; Chen Y; Wang D; Zhang J; Chen J; Yang X; Li J; Yang Z; Jiang Y; Liao J; Zhang Y
    Front Mol Neurosci; 2022; 15():809951. PubMed ID: 35431799
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Functional analysis of a novel
    Hu X; Jing M; Wang Y; Liu Y; Hua Y
    Front Mol Neurosci; 2023; 16():1159649. PubMed ID: 37152433
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
    Gerald B; Ramsey K; Belnap N; Szelinger S; Siniard AL; Balak C; Russell M; Richholt R; De Both M; Claasen AM; Schrauwen I; Huentelman MJ; Craig DW; Rangasamy S; Narayanan V
    Semin Pediatr Neurol; 2018 Jul; 26():28-32. PubMed ID: 29961512
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.
    Shi X; Yasumoto S; Nakagawa E; Fukasawa T; Uchiya S; Hirose S
    Brain Dev; 2009 Nov; 31(10):758-62. PubMed ID: 19783390
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetics and clinical correlation of Dravet syndrome and its mimics - experience of a tertiary center in Taiwan.
    Liu YH; Cheng YT; Tsai MH; Chou IJ; Hung PC; Hsieh MY; Wang YS; Chen YJ; Kuo CY; Lin JJ; Wang HS; Lin KL
    Pediatr Neonatol; 2021 Sep; 62(5):550-558. PubMed ID: 34226156
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The possible effect of SCN1A and SCN2A genetic variants on carbamazepine response among Khyber Pakhtunkhwa epileptic patients, Pakistan.
    Nazish HR; Ali N; Ullah S
    Ther Clin Risk Manag; 2018; 14():2305-2313. PubMed ID: 30538486
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.