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.
25. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Muona M; Berkovic SF; Dibbens LM; Oliver KL; Maljevic S; Bayly MA; Joensuu T; Canafoglia L; Franceschetti S; Michelucci R; Markkinen S; Heron SE; Hildebrand MS; Andermann E; Andermann F; Gambardella A; Tinuper P; Licchetta L; Scheffer IE; Criscuolo C; Filla A; Ferlazzo E; Ahmad J; Ahmad A; Baykan B; Said E; Topcu M; Riguzzi P; King MD; Ozkara C; Andrade DM; Engelsen BA; Crespel A; Lindenau M; Lohmann E; Saletti V; Massano J; Privitera M; Espay AJ; Kauffmann B; Duchowny M; Møller RS; Straussberg R; Afawi Z; Ben-Zeev B; Samocha KE; Daly MJ; Petrou S; Lerche H; Palotie A; Lehesjoki AE Nat Genet; 2015 Jan; 47(1):39-46. PubMed ID: 25401298 [TBL] [Abstract][Full Text] [Related]
26. Generation of induced pluripotent stem cell GZHMCi001-A and GZHMCi001-B derived from peripheral blood mononuclear cells of epileptic patients with KCNC1 mutation. Nengqing L; Dian L; Yingjun X; Yi C; Lina H; Diyu C; Yinghong Y; Bing S; Xiaofang S Stem Cell Res; 2020 Jul; 47():101897. PubMed ID: 32712483 [TBL] [Abstract][Full Text] [Related]
27. A KCNC1-related neurological disorder due to gain of Kv3.1 function. Clatot J; Ginn N; Costain G; Goldberg EM Ann Clin Transl Neurol; 2023 Jan; 10(1):111-117. PubMed ID: 36419348 [TBL] [Abstract][Full Text] [Related]
28. Mutation of a potassium channel-related gene in progressive myoclonic epilepsy. Van Bogaert P; Azizieh R; Désir J; Aeby A; De Meirleir L; Laes JF; Christiaens F; Abramowicz MJ Ann Neurol; 2007 Jun; 61(6):579-86. PubMed ID: 17455289 [TBL] [Abstract][Full Text] [Related]
31. [Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy]. Zhang J; Zhang YH; Chen JY; Ji TY; Yang ZX; Yang XL; Sun W; Zhang LP; Wu XR Zhonghua Er Ke Za Zhi; 2019 Jun; 57(6):458-464. PubMed ID: 31216804 [No Abstract] [Full Text] [Related]
32. KCNC1-related disorders: new de novo variants expand the phenotypic spectrum. Park J; Koko M; Hedrich UBS; Hermann A; Cremer K; Haberlandt E; Grimmel M; Alhaddad B; Beck-Woedl S; Harrer M; Karall D; Kingelhoefer L; Tzschach A; Matthies LC; Strom TM; Ringelstein EB; Sturm M; Engels H; Wolff M; Lerche H; Haack TB Ann Clin Transl Neurol; 2019 Jul; 6(7):1319-1326. PubMed ID: 31353862 [TBL] [Abstract][Full Text] [Related]
33. A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. Perandones C; Pellene LA; Micheli F Mov Disord; 2014 Jan; 29(1):158-9. PubMed ID: 24339182 [No Abstract] [Full Text] [Related]
34. Two sisters with myoclonus and ataxia. Pereira M; Durães J; Macário MDC Pract Neurol; 2020 May; 20(3):249-252. PubMed ID: 32161095 [No Abstract] [Full Text] [Related]