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4. Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy. Mei L; Huang Y; Chen J; He X; Lin S; Liao L; Wang X; Huang X; Sha Y; Ji Z; Li P Clin Chim Acta; 2019 Jun; 493():87-91. PubMed ID: 30825425 [TBL] [Abstract][Full Text] [Related]
5. Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. Kousi M; Anttila V; Schulz A; Calafato S; Jakkula E; Riesch E; Myllykangas L; Kalimo H; Topçu M; Gökben S; Alehan F; Lemke JR; Alber M; Palotie A; Kopra O; Lehesjoki AE J Med Genet; 2012 Jun; 49(6):391-9. PubMed ID: 22693283 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature. Yoganathan S; Whitney R; Thomas M; Danda S; Chettali AM; Prasad AN; Farhan SMK; AlSowat D; Abukhaled M; Aldhalaan H; Gowda VK; Kinhal UV; Bylappa AY; Konanki R; Lingappa L; Parchuri BM; Appendino JP; Scantlebury MH; Cunningham J; Hadjinicolaou A; El Achkar CM; Kamate M; Menon RN; Jose M; Riordan G; Kannan L; Jain V; Manokaran RK; Chau V; Donner EJ; Costain G; Minassian BA; Jain P Epilepsia; 2024 Mar; 65(3):709-724. PubMed ID: 38231304 [TBL] [Abstract][Full Text] [Related]
8. Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons. Azizieh R; Orduz D; Van Bogaert P; Bouschet T; Rodriguez W; Schiffmann SN; Pirson I; Abramowicz MJ Mol Neurobiol; 2011 Aug; 44(1):111-21. PubMed ID: 21710140 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature. Narayanan DL; Somashekar PH; Majethia P; Shukla A Clin Dysmorphol; 2022 Jan; 31(1):6-10. PubMed ID: 34866617 [TBL] [Abstract][Full Text] [Related]
11. KCTD7-related progressive myoclonus epilepsy. Van Bogaert P Epileptic Disord; 2016 Sep; 18(S2):115-119. PubMed ID: 27629772 [TBL] [Abstract][Full Text] [Related]
12. [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]
13. A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene. Algahtani H; Al-Hakami F; Al-Shehri M; Shirah B; Al-Qahtani MH; Abdulkareem AA; Naseer MI Seizure; 2019 Jul; 69():133-139. PubMed ID: 31035234 [TBL] [Abstract][Full Text] [Related]
14. Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects. Liang JH; Alevy J; Akhanov V; Seo R; Massey CA; Jiang D; Zhou J; Sillitoe RV; Noebels JL; Samuel MA Dis Model Mech; 2022 Sep; 15(9):. PubMed ID: 35972048 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Progressive myoclonic epilepsy-associated gene Kctd7 regulates retinal neurovascular patterning and function. Alevy J; Burger CA; Albrecht NE; Jiang D; Samuel MA Neurochem Int; 2019 Oct; 129():104486. PubMed ID: 31175897 [TBL] [Abstract][Full Text] [Related]
19. Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. Mastrangelo M; Sartori S; Simonati A; Brinciotti M; Moro F; Nosadini M; Pezzini F; Doccini S; Santorelli FM; Leuzzi V Eur J Med Genet; 2019 Dec; 62(12):103591. PubMed ID: 30500434 [TBL] [Abstract][Full Text] [Related]
20. KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect. Metz KA; Teng X; Coppens I; Lamb HM; Wagner BE; Rosenfeld JA; Chen X; Zhang Y; Kim HJ; Meadow ME; Wang TS; Haberlandt ED; Anderson GW; Leshinsky-Silver E; Bi W; Markello TC; Pratt M; Makhseed N; Garnica A; Danylchuk NR; Burrow TA; Jayakar P; McKnight D; Agadi S; Gbedawo H; Stanley C; Alber M; Prehl I; Peariso K; Ong MT; Mordekar SR; Parker MJ; Crooks D; Agrawal PB; Berry GT; Loddenkemper T; Yang Y; Maegawa GHB; Aouacheria A; Markle JG; Wohlschlegel JA; Hartman AL; Hardwick JM Ann Neurol; 2018 Nov; 84(5):766-780. PubMed ID: 30295347 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]