236 related articles for article (PubMed ID: 29895895)
21. A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant.
Ishihara N; Inagaki H; Miyake M; Kawamura Y; Yoshikawa T; Kurahashi H
Brain Dev; 2019 Mar; 41(3):285-291. PubMed ID: 30392841
[TBL] [Abstract][Full Text] [Related]
22. Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.
Holze N; Baalen AV; Stephani U; Helbig I; Muhle H
Neuropediatrics; 2018 Oct; 49(5):342-346. PubMed ID: 29801192
[TBL] [Abstract][Full Text] [Related]
23. [Phenotypic and genotypic characteristics of fever-induced paroxysmal weakness and encephalopathy caused by ATP1A3 pathogenic variants].
Zhang WH; Ren XT; Feng WX; Chen CH; Ding CH; Lyu JL; Han TL
Zhonghua Er Ke Za Zhi; 2019 Jul; 57(7):543-547. PubMed ID: 31269555
[No Abstract] [Full Text] [Related]
24. Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.
Boonsimma P; Michael Gasser M; Netbaramee W; Wechapinan T; Srichomthong C; Ittiwut C; Wagner M; Krenn M; Zimprich F; Abicht A; Biskup S; Roser T; Borggraefe I; Suphapeetiporn K; Shotelersuk V
Gene; 2020 Jul; 749():144709. PubMed ID: 32339621
[TBL] [Abstract][Full Text] [Related]
25. Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia.
Nomura S; Kashiwagi M; Tanabe T; Oba C; Yanagi K; Kaname T; Okamoto N; Ashida A
Brain Dev; 2021 Apr; 43(4):566-570. PubMed ID: 33451880
[TBL] [Abstract][Full Text] [Related]
26. Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.
Boelman C; Lagman-Bartolome AM; MacGregor DL; McCabe J; Logan WJ; Minassian BA
Pediatr Neurol; 2014 Dec; 51(6):850-3. PubMed ID: 25439493
[TBL] [Abstract][Full Text] [Related]
27. Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.
Muthaffar OY; Alqarni A; Shafei JA; Bahowarth SY; Alyazidi AS; Naseer MI
Genes Genomics; 2024 Apr; 46(4):475-487. PubMed ID: 38243045
[TBL] [Abstract][Full Text] [Related]
28. Genotype-phenotype correlations in alternating hemiplegia of childhood.
Sasaki M; Ishii A; Saito Y; Morisada N; Iijima K; Takada S; Araki A; Tanabe Y; Arai H; Yamashita S; Ohashi T; Oda Y; Ichiseki H; Hirabayashi S; Yasuhara A; Kawawaki H; Kimura S; Shimono M; Narumiya S; Suzuki M; Yoshida T; Oyazato Y; Tsuneishi S; Ozasa S; Yokochi K; Dejima S; Akiyama T; Kishi N; Kira R; Ikeda T; Oguni H; Zhang B; Tsuji S; Hirose S
Neurology; 2014 Feb; 82(6):482-90. PubMed ID: 24431296
[TBL] [Abstract][Full Text] [Related]
29. Asystole in alternating hemiplegia with de novo ATP1A3 mutation.
Novy J; McWilliams E; Sisodiya SM
Eur J Med Genet; 2014 Jan; 57(1):37-9. PubMed ID: 24291144
[TBL] [Abstract][Full Text] [Related]
30. A novel ATP1A3 mutation with unique clinical presentation.
Rosewich H; Baethmann M; Ohlenbusch A; Gärtner J; Brockmann K
J Neurol Sci; 2014 Jun; 341(1-2):133-5. PubMed ID: 24713507
[TBL] [Abstract][Full Text] [Related]
31. [A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].
Zhang CL; Yin F; He F; Gai N; Shi ZQ; Peng J
Zhonghua Er Ke Za Zhi; 2017 Apr; 55(4):288-293. PubMed ID: 28441826
[No Abstract] [Full Text] [Related]
32. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.
Demos MK; van Karnebeek CD; Ross CJ; Adam S; Shen Y; Zhan SH; Shyr C; Horvath G; Suri M; Fryer A; Jones SJ; Friedman JM;
Orphanet J Rare Dis; 2014 Jan; 9():15. PubMed ID: 24468074
[TBL] [Abstract][Full Text] [Related]
33. A novel presentation of an ATP1A3 gene mutation - case report and literature review.
Kostopoulou E; Avgeri A; Apostolou MI; Tzifas S; Dimitriou G
Eur Rev Med Pharmacol Sci; 2022 Feb; 26(4):1108-1113. PubMed ID: 35253165
[TBL] [Abstract][Full Text] [Related]
34. Mosaicism in ATP1A3-related disorders: not just a theoretical risk.
Hully M; Ropars J; Hubert L; Boddaert N; Rio M; Bernardelli M; Desguerre I; Cormier-Daire V; Munnich A; de Lonlay P; Reilly L; Besmond C; Bahi-Buisson N
Neurogenetics; 2017 Jan; 18(1):23-28. PubMed ID: 27726050
[TBL] [Abstract][Full Text] [Related]
35. Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki E; De Grandis E; Stagnaro M; Heinzen EL; Fons C; Sisodiya S; de Vries B; Goubau C; Weckhuysen S; Kemlink D; Scheffer I; Lesca G; Rabilloud M; Klich A; Ramirez-Camacho A; Ulate-Campos A; Campistol J; Giannotta M; Moutard ML; Doummar D; Hubsch-Bonneaud C; Jaffer F; Cross H; Gurrieri F; Tiziano D; Nevsimalova S; Nicole S; Neville B; van den Maagdenberg AM; Mikati M; Goldstein DB; Vavassori R; Arzimanoglou A; ; ;
Orphanet J Rare Dis; 2015 Sep; 10():123. PubMed ID: 26410222
[TBL] [Abstract][Full Text] [Related]
36. Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Viollet L; Glusman G; Murphy KJ; Newcomb TM; Reyna SP; Sweney M; Nelson B; Andermann F; Andermann E; Acsadi G; Barbano RL; Brown C; Brunkow ME; Chugani HT; Cheyette SR; Collins A; DeBrosse SD; Galas D; Friedman J; Hood L; Huff C; Jorde LB; King MD; LaSalle B; Leventer RJ; Lewelt AJ; Massart MB; Mérida MR; Ptáček LJ; Roach JC; Rust RS; Renault F; Sanger TD; Sotero de Menezes MA; Tennyson R; Uldall P; Zhang Y; Zupanc M; Xin W; Silver K; Swoboda KJ
PLoS One; 2015; 10(5):e0127045. PubMed ID: 25996915
[TBL] [Abstract][Full Text] [Related]
37. Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.
Ulate-Campos A; Fons C; Artuch R; Castejón E; Martorell L; Ozelius L; Pascual J; Campistol J
Pediatr Neurol; 2014 Apr; 50(4):377-9. PubMed ID: 24491413
[TBL] [Abstract][Full Text] [Related]
38. ATP1A3-related epileptic encephalopathy responding to ketogenic diet.
Schirinzi T; Graziola F; Cusmai R; Fusco L; Nicita F; Elia M; Travaglini L; Bertini E; Curatolo P; Vigevano F; Capuano A
Brain Dev; 2018 May; 40(5):433-438. PubMed ID: 29395663
[TBL] [Abstract][Full Text] [Related]
39. Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.
Schirinzi T; Graziola F; Nicita F; Travaglini L; Stregapede F; Valeriani M; Curatolo P; Bertini E; Vigevano F; Capuano A
Cerebellum; 2018 Aug; 17(4):489-493. PubMed ID: 29397530
[TBL] [Abstract][Full Text] [Related]
40. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
Smedemark-Margulies N; Brownstein CA; Vargas S; Tembulkar SK; Towne MC; Shi J; Gonzalez-Cuevas E; Liu KX; Bilguvar K; Kleiman RJ; Han MJ; Torres A; Berry GT; Yu TW; Beggs AH; Agrawal PB; Gonzalez-Heydrich J
Cold Spring Harb Mol Case Stud; 2016 Sep; 2(5):a001008. PubMed ID: 27626066
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
