198 related articles for article (PubMed ID: 31353855)
1. Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.
Cameron JM; Maljevic S; Nair U; Aung YH; Cogné B; Bézieau S; Blair E; Isidor B; Zweier C; Reis A; Koenig MK; Maarup T; Sarco D; Afenjar A; Huq AHMM; Kukolich M; Billette de Villemeur T; Nava C; Héron B; Petrou S; Berkovic SF
Ann Clin Transl Neurol; 2019 Jul; 6(7):1263-1272. PubMed ID: 31353855
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. 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]
5. 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]
6. 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]
7. 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]
8. [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]
9. Loss of Function of KCNC1 is associated with intellectual disability without seizures.
Poirier K; Viot G; Lombardi L; Jauny C; Billuart P; Bienvenu T
Eur J Hum Genet; 2017 May; 25(5):560-564. PubMed ID: 28145425
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes.
Li X; Zheng Y; Li S; Nair U; Sun C; Zhao C; Lu J; Zhang VW; Maljevic S; Petrou S; Lin J
Ann Transl Med; 2021 Sep; 9(18):1397. PubMed ID: 34733949
[TBL] [Abstract][Full Text] [Related]
12. Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
Kim SY; Jang SS; Kim H; Hwang H; Choi JE; Chae JH; Kim KJ; Lim BC
Clin Genet; 2021 Mar; 99(3):418-424. PubMed ID: 33349918
[TBL] [Abstract][Full Text] [Related]
13. Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Masnada S; Hedrich UBS; Gardella E; Schubert J; Kaiwar C; Klee EW; Lanpher BC; Gavrilova RH; Synofzik M; Bast T; Gorman K; King MD; Allen NM; Conroy J; Ben Zeev B; Tzadok M; Korff C; Dubois F; Ramsey K; Narayanan V; Serratosa JM; Giraldez BG; Helbig I; Marsh E; O'Brien M; Bergqvist CA; Binelli A; Porter B; Zaeyen E; Horovitz DD; Wolff M; Marjanovic D; Caglayan HS; Arslan M; Pena SDJ; Sisodiya SM; Balestrini S; Syrbe S; Veggiotti P; Lemke JR; Møller RS; Lerche H; Rubboli G
Brain; 2017 Sep; 140(9):2337-2354. PubMed ID: 29050392
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Veeramah KR; Johnstone L; Karafet TM; Wolf D; Sprissler R; Salogiannis J; Barth-Maron A; Greenberg ME; Stuhlmann T; Weinert S; Jentsch TJ; Pazzi M; Restifo LL; Talwar D; Erickson RP; Hammer MF
Epilepsia; 2013 Jul; 54(7):1270-81. PubMed ID: 23647072
[TBL] [Abstract][Full Text] [Related]
16. A KCNC1 mutation in epilepsy of infancy with focal migrating seizures produces functional channels that fail to be regulated by PKC phosphorylation.
Zhang Y; Ali SR; Nabbout R; Barcia G; Kaczmarek LK
J Neurophysiol; 2021 Aug; 126(2):532-539. PubMed ID: 34232791
[TBL] [Abstract][Full Text] [Related]
17. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Marini C; Porro A; Rastetter A; Dalle C; Rivolta I; Bauer D; Oegema R; Nava C; Parrini E; Mei D; Mercer C; Dhamija R; Chambers C; Coubes C; Thévenon J; Kuentz P; Julia S; Pasquier L; Dubourg C; Carré W; Rosati A; Melani F; Pisano T; Giardino M; Innes AM; Alembik Y; Scheidecker S; Santos M; Figueiroa S; Garrido C; Fusco C; Frattini D; Spagnoli C; Binda A; Granata T; Ragona F; Freri E; Franceschetti S; Canafoglia L; Castellotti B; Gellera C; Milanesi R; Mancardi MM; Clark DR; Kok F; Helbig KL; Ichikawa S; Sadler L; Neupauerová J; Laššuthova P; Šterbová K; Laridon A; Brilstra E; Koeleman B; Lemke JR; Zara F; Striano P; Soblet J; Smits G; Deconinck N; Barbuti A; DiFrancesco D; LeGuern E; Guerrini R; Santoro B; Hamacher K; Thiel G; Moroni A; DiFrancesco JC; Depienne C
Brain; 2018 Nov; 141(11):3160-3178. PubMed ID: 30351409
[TBL] [Abstract][Full Text] [Related]
18. A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
Ambrosino P; Ragona F; Mosca I; Vannicola C; Canafoglia L; Solazzi R; Rivolta I; Freri E; Granata T; Messina G; Castellotti B; Gellera C; Soldovieri MV; DiFrancesco JC; Taglialatela M
Epilepsia; 2023 Jul; 64(7):e148-e155. PubMed ID: 37203213
[TBL] [Abstract][Full Text] [Related]
19. A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.
Rydzanicz M; Zwoliński P; Gasperowicz P; Pollak A; Kostrzewa G; Walczak A; Konarzewska M; Płoski R
Am J Med Genet A; 2021 Nov; 185(11):3384-3389. PubMed ID: 34448338
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]