366 related articles for article (PubMed ID: 27733563)
1. Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA; Bellows ST; Li M; Carroll R; Micallef S; Carvill GL; Myers CT; Howell KB; Maljevic S; Lerche H; Gazina EV; Mefford HC; Bahlo M; Berkovic SF; Petrou S; Scheffer IE; Gecz J
Neurology; 2016 Nov; 87(19):1975-1984. PubMed ID: 27733563
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
Rogers A; Golumbek P; Cellini E; Doccini V; Guerrini R; Wallgren-Pettersson C; Thuresson AC; Gurnett CA
Am J Med Genet A; 2018 Aug; 176(8):1748-1752. PubMed ID: 30055040
[TBL] [Abstract][Full Text] [Related]
4. Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.
Pena SD; Coimbra RL
Clin Genet; 2015 Feb; 87(2):e1-3. PubMed ID: 25477152
[TBL] [Abstract][Full Text] [Related]
5. A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Helbig KL; Hedrich UB; Shinde DN; Krey I; Teichmann AC; Hentschel J; Schubert J; Chamberlin AC; Huether R; Lu HM; Alcaraz WA; Tang S; Jungbluth C; Dugan SL; Vainionpää L; Karle KN; Synofzik M; Schöls L; Schüle R; Lehesjoki AE; Helbig I; Lerche H; Lemke JR
Ann Neurol; 2016 Oct; 80(4):638-42. PubMed ID: 27543892
[TBL] [Abstract][Full Text] [Related]
6. A Novel
Imbrici P; Conte E; Blunck R; Stregapede F; Liantonio A; Tosi M; D'Adamo MC; De Luca A; Brankovic V; Zanni G
Int J Mol Sci; 2021 Sep; 22(18):. PubMed ID: 34576077
[TBL] [Abstract][Full Text] [Related]
7. Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.
Hundallah K; Alenizi A; AlHashem A; Tabarki B
Eur J Paediatr Neurol; 2016 Jul; 20(4):657-60. PubMed ID: 27117551
[TBL] [Abstract][Full Text] [Related]
8. Refining Genotypes and Phenotypes in
Döring JH; Schröter J; Jüngling J; Biskup S; Klotz KA; Bast T; Dietel T; Korenke GC; Christoph S; Brennenstuhl H; Rubboli G; Møller RS; Lesca G; Chaix Y; Kölker S; Hoffmann GF; Lemke JR; Syrbe S
Int J Mol Sci; 2021 Mar; 22(6):. PubMed ID: 33802230
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.
Schwarz N; Hahn A; Bast T; Müller S; Löffler H; Maljevic S; Gaily E; Prehl I; Biskup S; Joensuu T; Lehesjoki AE; Neubauer BA; Lerche H; Hedrich UBS
J Neurol; 2016 Feb; 263(2):334-343. PubMed ID: 26645390
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Novel clinical manifestations in patients with KCNA2 mutations.
Sachdev M; Gaínza-Lein M; Tchapyjnikov D; Jiang YH; Loddenkemper T; Mikati MA
Seizure; 2017 Oct; 51():74-76. PubMed ID: 28806589
[TBL] [Abstract][Full Text] [Related]
13. Tracking the motion of the K
Pantazis A; Kaneko M; Angelini M; Steccanella F; Westerlund AM; Lindström SH; Nilsson M; Delemotte L; Saitta SC; Olcese R
J Physiol; 2020 Nov; 598(22):5245-5269. PubMed ID: 32833227
[TBL] [Abstract][Full Text] [Related]
14. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S; Hedrich UBS; Riesch E; Djémié T; Müller S; Møller RS; Maher B; Hernandez-Hernandez L; Synofzik M; Caglayan HS; Arslan M; Serratosa JM; Nothnagel M; May P; Krause R; Löffler H; Detert K; Dorn T; Vogt H; Krämer G; Schöls L; Mullis PE; Linnankivi T; Lehesjoki AE; Sterbova K; Craiu DC; Hoffman-Zacharska D; Korff CM; Weber YG; Steinlin M; Gallati S; Bertsche A; Bernhard MK; Merkenschlager A; Kiess W; ; Gonzalez M; Züchner S; Palotie A; Suls A; De Jonghe P; Helbig I; Biskup S; Wolff M; Maljevic S; Schüle R; Sisodiya SM; Weckhuysen S; Lerche H; Lemke JR
Nat Genet; 2015 Apr; 47(4):393-399. PubMed ID: 25751627
[TBL] [Abstract][Full Text] [Related]
15. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
Gong P; Xue J; Jiao XR; Zhang YH; Yang ZX
Zhonghua Er Ke Za Zhi; 2020 Jan; 58(1):35-40. PubMed ID: 31905474
[No Abstract] [Full Text] [Related]
16. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
Zuberi SM; Eunson LH; Spauschus A; De Silva R; Tolmie J; Wood NW; McWilliam RC; Stephenson JB; Kullmann DM; Hanna MG
Brain; 1999 May; 122 ( Pt 5)():817-25. PubMed ID: 10355668
[TBL] [Abstract][Full Text] [Related]
17. SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.
Liao Y; Anttonen AK; Liukkonen E; Gaily E; Maljevic S; Schubert S; Bellan-Koch A; Petrou S; Ahonen VE; Lerche H; Lehesjoki AE
Neurology; 2010 Oct; 75(16):1454-8. PubMed ID: 20956790
[TBL] [Abstract][Full Text] [Related]
18. Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.
Ishida S; Sakamoto Y; Nishio T; Baulac S; Kuwamura M; Ohno Y; Takizawa A; Kaneko S; Serikawa T; Mashimo T
Brain Res; 2012 Jan; 1435():154-66. PubMed ID: 22206926
[TBL] [Abstract][Full Text] [Related]
19. A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.
Imbrici P; Gualandi F; D'Adamo MC; Masieri MT; Cudia P; De Grandis D; Mannucci R; Nicoletti I; Tucker SJ; Ferlini A; Pessia M
Neuroscience; 2008 Dec; 157(3):577-87. PubMed ID: 18926884
[TBL] [Abstract][Full Text] [Related]
20. Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and Ataxia.
Dinoi G; Morin M; Conte E; Mor Shaked H; Coppola MA; D'Adamo MC; Elpeleg O; Liantonio A; Hartmann I; De Luca A; Blunck R; Russo A; Imbrici P
Int J Mol Sci; 2022 Jul; 23(15):. PubMed ID: 35897654
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
