BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

231 related articles for article (PubMed ID: 22848613)

  • 1. Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
    Kwong AK; Fung CW; Chan SY; Wong VC
    PLoS One; 2012; 7(7):e41802. PubMed ID: 22848613
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.
    Rampazzo ACM; Dos Santos RRP; Maluf FA; Simm RF; Marson FAL; Ortega MM; de Aguiar PHP
    Neurogenetics; 2021 May; 22(2):105-115. PubMed ID: 33937968
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of novel and de novo variant in the SCN1A gene confirms Dravet syndrome in Moroccan child: a case report.
    El Mouhi H; Amllal N; Abbassi M; Nedbour A; Jalte M; Lyahyai J; Chafai Elalaoui S; Bouguenouch L; Chaouki S
    Mol Biol Rep; 2024 Jan; 51(1):233. PubMed ID: 38282049
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Dravet syndrome in South African infants: Tools for an early diagnosis.
    Esterhuizen AI; Mefford HC; Ramesar RS; Wang S; Carvill GL; Wilmshurst JM
    Seizure; 2018 Nov; 62():99-105. PubMed ID: 30321769
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report.
    Sharkia R; Hengel H; Schöls L; Athamna M; Bauer P; Mahajnah M
    J Med Case Rep; 2016 Mar; 10():67. PubMed ID: 27021235
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
    Claes L; Del-Favero J; Ceulemans B; Lagae L; Van Broeckhoven C; De Jonghe P
    Am J Hum Genet; 2001 Jun; 68(6):1327-32. PubMed ID: 11359211
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers.
    Sierra-Marcos A; Ribosa-Nogué R; Vidal-Robau N; Aldecoa I; Turón E; Rodríguez-Santiago B; Turón M; Boronat S; Molina-Porcel L
    Epilepsy Res; 2024 Jan; 199():107266. PubMed ID: 38061235
    [TBL] [Abstract][Full Text] [Related]  

  • 8. SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
    van Hugte EJH; Lewerissa EI; Wu KM; Scheefhals N; Parodi G; van Voorst TW; Puvogel S; Kogo N; Keller JM; Frega M; Schubert D; Schelhaas HJ; Verhoeven J; Majoie M; van Bokhoven H; Nadif Kasri N
    Brain; 2023 Dec; 146(12):5153-5167. PubMed ID: 37467479
    [TBL] [Abstract][Full Text] [Related]  

  • 9. SCN1A Gene Mutations in Indian Children With Epilepsy: Single Center Experience.
    Maruthi G; Dhayalan P; Kumaran P; Soundraoandiyan J; Gambhir P
    Indian Pediatr; 2023 Aug; 60(8):648-650. PubMed ID: 37209046
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.
    Xu X; Yang X; Wu Q; Liu A; Yang X; Ye AY; Huang AY; Li J; Wang M; Yu Z; Wang S; Zhang Z; Wu X; Wei L; Zhang Y
    Hum Mutat; 2015 Sep; 36(9):861-72. PubMed ID: 26096185
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.
    Teralı K; Türkyılmaz A; Sağer SG; Çebi AH
    Clin Transl Sci; 2024 Jan; 17(1):e13679. PubMed ID: 37955180
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genetic exploration of Dravet syndrome: two case report.
    Triono A; Herini ES; Gunadi
    J Med Case Rep; 2024 Apr; 18(1):215. PubMed ID: 38649973
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy].
    Peng B; Zhu H; Tian Y; Li X; Wang X; Gao Y; Zhang Y; Shen H; Chen W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr; 41(4):426-431. PubMed ID: 38565507
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
    Gallagher D; Pérez-Palma E; Bruenger T; Ghanty I; Brilstra E; Ceulemans B; Chemaly N; de Lange I; Depienne C; Guerrini R; Mei D; Møller RS; Nabbout R; Regan BM; Schneider AL; Scheffer IE; Schoonjans AS; Symonds JD; Weckhuysen S; Zuberi SM; Lal D; Brunklaus A
    Epilepsia; 2024 Apr; 65(4):1046-1059. PubMed ID: 38410936
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes.
    Postma A; Minderhoud CA; Otte WM; Jansen FE; Gunning WB; Verhoeven JS; Jongmans MJ; Zinkstok JR; Brilstra EH
    Epilepsy Behav; 2024 May; 154():109726. PubMed ID: 38513571
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Targeted Molecular Strategies for Genetic Neurodevelopmental Disorders: Emerging Lessons from Dravet Syndrome.
    Lersch R; Jannadi R; Grosse L; Wagner M; Schneider MF; von Stülpnagel C; Heinen F; Potschka H; Borggraefe I
    Neuroscientist; 2023 Dec; 29(6):732-750. PubMed ID: 35414300
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Disordered breathing in a mouse model of Dravet syndrome.
    Kuo FS; Cleary CM; LoTurco JJ; Chen X; Mulkey DK
    Elife; 2019 Apr; 8():. PubMed ID: 31025941
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SCN1A as a therapeutic target for Dravet syndrome.
    Myers KA
    Expert Opin Ther Targets; 2023; 27(6):459-467. PubMed ID: 37364240
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Temporal manipulation of the Scn1a gene reveals its essential role in adult brain function.
    Di Berardino C; Mainardi M; Brusco S; Benvenuto E; Broccoli V; Colasante G
    Brain; 2024 Apr; 147(4):1216-1230. PubMed ID: 37812819
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Antisense oligonucleotides restore excitability, GABA signalling and sodium current density in a Dravet syndrome model.
    Yuan Y; Lopez-Santiago L; Denomme N; Chen C; O'Malley HA; Hodges SL; Ji S; Han Z; Christiansen A; Isom LL
    Brain; 2024 Apr; 147(4):1231-1246. PubMed ID: 37812817
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.