BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 33725338)

  • 1. Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK): a cause of progressive myoclonic epilepsy.
    Mahale RR; Tiwari R; Arunachal G; Padmanabha H; Mailankody P
    Acta Neurol Belg; 2022 Jun; 122(3):801-803. PubMed ID: 33725338
    [No Abstract]   [Full Text] [Related]  

  • 2. Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature.
    Barot N; Margiotta M; Nei M; Skidmore C
    Epileptic Disord; 2020 Oct; 22(5):654-658. PubMed ID: 32972906
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Familial cases of progressive myoclonic epilepsy caused by maternal somatic mosaicism of a recurrent KCNC1 p.Arg320His mutation.
    Kim H; Lee S; Choi M; Kim H; Hwang H; Choi J; Chae JH; Kim KJ; Lim BC
    Brain Dev; 2018 May; 40(5):429-432. PubMed ID: 29428275
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations.
    Nascimento FA; Andrade DM
    Epileptic Disord; 2016 Sep; 18(S2):135-138. PubMed ID: 27629860
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy.
    Carpenter JC; Männikkö R; Heffner C; Heneine J; Sampedro-Castañeda M; Lignani G; Schorge S
    Epilepsia; 2021 May; 62(5):1256-1267. PubMed ID: 33735526
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K
    Oliver KL; Franceschetti S; Milligan CJ; Muona M; Mandelstam SA; Canafoglia L; Boguszewska-Chachulska AM; Korczyn AD; Bisulli F; Di Bonaventura C; Ragona F; Michelucci R; Ben-Zeev B; Straussberg R; Panzica F; Massano J; Friedman D; Crespel A; Engelsen BA; Andermann F; Andermann E; Spodar K; Lasek-Bal A; Riguzzi P; Pasini E; Tinuper P; Licchetta L; Gardella E; Lindenau M; Wulf A; Møller RS; Benninger F; Afawi Z; Rubboli G; Reid CA; Maljevic S; Lerche H; Lehesjoki AE; Petrou S; Berkovic SF
    Ann Neurol; 2017 May; 81(5):677-689. PubMed ID: 28380698
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
    Farhan SM; Murphy LM; Robinson JF; Wang J; Siu VM; Rupar CA; Prasad AN; ; Hegele RA
    Epilepsia; 2014 Sep; 55(9):e106-11. PubMed ID: 25060828
    [TBL] [Abstract][Full Text] [Related]  

  • 8. KCTD7-related progressive myoclonus epilepsy.
    Van Bogaert P
    Epileptic Disord; 2016 Sep; 18(S2):115-119. PubMed ID: 27629772
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy.
    Feng H; Clatot J; Kaneko K; Flores-Mendez M; Wengert ER; Koutcher C; Hoddeson E; Lopez E; Lee D; Arias L; Liang Q; Zhang X; Somarowthu A; Covarrubias M; Gunthorpe MJ; Large CH; Akizu N; Goldberg EM
    Cell Rep Med; 2024 Feb; 5(2):101389. PubMed ID: 38266642
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy.
    Krabichler B; Rostasy K; Baumann M; Karall D; Scholl-Bürgi S; Schwarzer C; Gautsch K; Spreiz A; Kotzot D; Zschocke J; Fauth C; Haberlandt E
    Ann Hum Genet; 2012 Jul; 76(4):326-31. PubMed ID: 22606975
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature.
    Sobstyl M; Kożuch N; Iwaniuk-Gugała M; Stapińska-Syniec A; Konopko M; Jezierski P
    Epilepsy Behav Rep; 2023; 24():100627. PubMed ID: 37928363
    [TBL] [Abstract][Full Text] [Related]  

  • 12. History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world.
    Berkovic SF; Striano P; Tsuji S
    Epilepsia; 2023 Jun; 64 Suppl 1(Suppl 1):S3-S8. PubMed ID: 36707971
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pharmacological rescue of mutated K
    Munch AS; Saljic A; Boddum K; Grunnet M; Hougaard C; Jespersen T
    Eur J Pharmacol; 2018 Aug; 833():255-262. PubMed ID: 29894724
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Transcranial magnetic stimulation in progressive myoclonus epilepsy: A promising tool for "deep phenotyping" in genetic epilepsies.
    Rubboli G; Valzania F
    Epilepsia; 2023 Sep; 64(9):2534-2535. PubMed ID: 37453054
    [No Abstract]   [Full Text] [Related]  

  • 15. A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
    Guerrero-López R; García-Ruiz PJ; Giráldez BG; Durán-Herrera C; Querol-Pascual MR; Ramírez-Moreno JM; Más S; Serratosa JM
    Mov Disord; 2012 Dec; 27(14):1826-7. PubMed ID: 23225201
    [No Abstract]   [Full Text] [Related]  

  • 16. Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.
    Canafoglia L; Castellotti B; Ragona F; Freri E; Granata T; Chiapparini L; Gellera C; Scaioli V; Franceschetti S; DiFrancesco JC
    Seizure; 2019 Feb; 65():106-108. PubMed ID: 30660924
    [No Abstract]   [Full Text] [Related]  

  • 17. A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia.
    Kim J; Kim I; Koh SB
    Parkinsonism Relat Disord; 2021 Jun; 87():135-136. PubMed ID: 34034154
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
    Moen MN; Fjær R; Hamdani EH; Laerdahl JK; Menchini RJ; Vigeland MD; Sheng Y; Undlien DE; Hassel B; Salih MA; El Khashab HY; Selmer KK; Chaudhry FA
    Brain; 2016 Dec; 139(Pt 12):3109-3120. PubMed ID: 27742667
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy.
    Herzog R; Hellenbroich Y; Brüggemann N; Lohmann K; Grimmel M; Haack TB; von Spiczak S; Münchau A
    Ann Clin Transl Neurol; 2021 Jul; 8(7):1524-1527. PubMed ID: 34092044
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report.
    G S B Lima PL; Nobrega PR; Freua F; Braga-Neto P; Paiva ARB; Guimarães TG; Kok F
    BMC Neurol; 2024 May; 24(1):169. PubMed ID: 38783211
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.