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 *

170 related articles for article (PubMed ID: 38233770)

  • 1. Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
    Hebbar M; Al-Taweel N; Gill I; Boelman C; Dean RA; Goodchild SJ; Mezeyova J; Shuart NG; Johnson JP; Lee J; Michoulas A; Huh LL; Armstrong L; Connolly MB; Demos MK
    BMC Neurol; 2024 Jan; 24(1):31. PubMed ID: 38233770
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
    Hebbar M; Al-Taweel N; Gill I; Boelman C; Dean RA; Goodchild SJ; Mezeyova J; Shuart NG; Johnson JP; Lee J; Michoulas A; Huh LL; Armstrong L; Connolly MB; Demos MK
    Res Sq; 2023 Aug; ():. PubMed ID: 37609289
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
    Johannesen KM; Liu Y; Koko M; Gjerulfsen CE; Sonnenberg L; Schubert J; Fenger CD; Eltokhi A; Rannap M; Koch NA; Lauxmann S; Krüger J; Kegele J; Canafoglia L; Franceschetti S; Mayer T; Rebstock J; Zacher P; Ruf S; Alber M; Sterbova K; Lassuthová P; Vlckova M; Lemke JR; Platzer K; Krey I; Heine C; Wieczorek D; Kroell-Seger J; Lund C; Klein KM; Au PYB; Rho JM; Ho AW; Masnada S; Veggiotti P; Giordano L; Accorsi P; Hoei-Hansen CE; Striano P; Zara F; Verhelst H; Verhoeven JS; Braakman HMH; van der Zwaag B; Harder AVE; Brilstra E; Pendziwiat M; Lebon S; Vaccarezza M; Le NM; Christensen J; Grønborg S; Scherer SW; Howe J; Fazeli W; Howell KB; Leventer R; Stutterd C; Walsh S; Gerard M; Gerard B; Matricardi S; Bonardi CM; Sartori S; Berger A; Hoffman-Zacharska D; Mastrangelo M; Darra F; Vøllo A; Motazacker MM; Lakeman P; Nizon M; Betzler C; Altuzarra C; Caume R; Roubertie A; Gélisse P; Marini C; Guerrini R; Bilan F; Tibussek D; Koch-Hogrebe M; Perry MS; Ichikawa S; Dadali E; Sharkov A; Mishina I; Abramov M; Kanivets I; Korostelev S; Kutsev S; Wain KE; Eisenhauer N; Wagner M; Savatt JM; Müller-Schlüter K; Bassan H; Borovikov A; Nassogne MC; Destrée A; Schoonjans AS; Meuwissen M; Buzatu M; Jansen A; Scalais E; Srivastava S; Tan WH; Olson HE; Loddenkemper T; Poduri A; Helbig KL; Helbig I; Fitzgerald MP; Goldberg EM; Roser T; Borggraefe I; Brünger T; May P; Lal D; Lederer D; Rubboli G; Heyne HO; Lesca G; Hedrich UBS; Benda J; Gardella E; Lerche H; Møller RS
    Brain; 2022 Sep; 145(9):2991-3009. PubMed ID: 34431999
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.
    Wengert ER; Tronhjem CE; Wagnon JL; Johannesen KM; Petit H; Krey I; Saga AU; Panchal PS; Strohm SM; Lange J; Kamphausen SB; Rubboli G; Lemke JR; Gardella E; Patel MK; Meisler MH; Møller RS
    Epilepsia; 2019 Nov; 60(11):2277-2285. PubMed ID: 31625145
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genotype-phenotype correlations in Polish patients with SCN8A-related epilepsy: A multicentre observational study.
    Paprocka J; Steinborn B; Krygier M; Winczewska-Wiktor A; Przyslo L; Hutny M; Hoffman-Zacharska D; Mazurkiewicz H; Kochanowska I; Zebrowska J; Zawadzka M; Piasecki L; Mazurkiewicz-Beldzinska M
    Seizure; 2024 Aug; 120():201-209. PubMed ID: 39047613
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders.
    Hu C; Luo T; Wang Y
    Seizure; 2022 Feb; 95():38-49. PubMed ID: 34979445
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal dominant SCN8A mutation with an unusually mild phenotype.
    Anand G; Collett-White F; Orsini A; Thomas S; Jayapal S; Trump N; Zaiwalla Z; Jayawant S
    Eur J Paediatr Neurol; 2016 Sep; 20(5):761-5. PubMed ID: 27210545
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The spectrum of intermediate SCN8A-related epilepsy.
    Johannesen KM; Gardella E; Encinas AC; Lehesjoki AE; Linnankivi T; Petersen MB; Lund ICB; Blichfeldt S; Miranda MJ; Pal DK; Lascelles K; Procopis P; Orsini A; Bonuccelli A; Giacomini T; Helbig I; Fenger CD; Sisodiya SM; Hernandez-Hernandez L; Krithika S; Rumple M; Masnada S; Valente M; Cereda C; Giordano L; Accorsi P; Bürki SE; Mancardi M; Korff C; Guerrini R; von Spiczak S; Hoffman-Zacharska D; Mazurczak T; Coppola A; Buono S; Vecchi M; Hammer MF; Varesio C; Veggiotti P; Lal D; Brünger T; Zara F; Striano P; Rubboli G; Møller RS
    Epilepsia; 2019 May; 60(5):830-844. PubMed ID: 30968951
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Paroxysmal tonic upgaze in a child with SCN8A-related encephalopathy.
    Solazzi R; Castellotti B; Canafoglia L; Messina G; Magri S; Freri E; Ragona F; Franceschetti S; Di Francesco JC; Gellera C; Granata T
    Epileptic Disord; 2021 Aug; 23(4):643-647. PubMed ID: 34259158
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genetic and clinical features of SCN8A developmental and epileptic encephalopathy.
    Kim HJ; Yang D; Kim SH; Kim B; Kim HD; Lee JS; Choi JR; Lee ST; Kang HC
    Epilepsy Res; 2019 Dec; 158():106222. PubMed ID: 31675620
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.
    Gardella E; Møller RS
    Epilepsia; 2019 Dec; 60 Suppl 3():S77-S85. PubMed ID: 31904124
    [TBL] [Abstract][Full Text] [Related]  

  • 12. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
    Blanchard MG; Willemsen MH; Walker JB; Dib-Hajj SD; Waxman SG; Jongmans MC; Kleefstra T; van de Warrenburg BP; Praamstra P; Nicolai J; Yntema HG; Bindels RJ; Meisler MH; Kamsteeg EJ
    J Med Genet; 2015 May; 52(5):330-7. PubMed ID: 25725044
    [TBL] [Abstract][Full Text] [Related]  

  • 13. SCN8A Epilepsy, Developmental Encephalopathy, and Related Disorders.
    Talwar D; Hammer MF
    Pediatr Neurol; 2021 Sep; 122():76-83. PubMed ID: 34353676
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey.
    Cutts A; Savoie H; Hammer MF; Schreiber J; Grayson C; Luzon C; Butterfield N; Pimstone SN; Aycardi E; Harden C; Yonan C; Jen E; Nguyen T; Carmack T; Haubenberger D
    Seizure; 2022 Apr; 97():50-57. PubMed ID: 35325842
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A Novel Inherited Mutation of
    Han JY; Jang JH; Lee IG; Shin S; Park J
    Ann Clin Lab Sci; 2017 Nov; 47(6):747-753. PubMed ID: 29263050
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A-related epilepsy.
    Chung KM; Hack J; Andrews J; Galindo-Kelly M; Schreiber J; Watkins J; Hammer MF
    Epilepsia; 2023 Dec; 64(12):3365-3376. PubMed ID: 37585367
    [TBL] [Abstract][Full Text] [Related]  

  • 17. SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
    Wang J; Gao H; Bao X; Zhang Q; Li J; Wei L; Wu X; Chen Y; Yu S
    BMC Med Genet; 2017 Sep; 18(1):104. PubMed ID: 28923014
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons.
    Tidball AM; Lopez-Santiago LF; Yuan Y; Glenn TW; Margolis JL; Clayton Walker J; Kilbane EG; Miller CA; Martina Bebin E; Scott Perry M; Isom LL; Parent JM
    Brain; 2020 Oct; 143(10):3025-3040. PubMed ID: 32968789
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
    de Kovel CG; Meisler MH; Brilstra EH; van Berkestijn FM; van 't Slot R; van Lieshout S; Nijman IJ; O'Brien JE; Hammer MF; Estacion M; Waxman SG; Dib-Hajj SD; Koeleman BP
    Epilepsy Res; 2014 Nov; 108(9):1511-8. PubMed ID: 25239001
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of
    Ottolini M; Barker BS; Gaykema RP; Meisler MH; Patel MK
    J Neurosci; 2017 Aug; 37(32):7643-7655. PubMed ID: 28676574
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.