237 related articles for article (PubMed ID: 27626066)
1. 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]
2. Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Rosewich H; Thiele H; Ohlenbusch A; Maschke U; Altmüller J; Frommolt P; Zirn B; Ebinger F; Siemes H; Nürnberg P; Brockmann K; Gärtner J
Lancet Neurol; 2012 Sep; 11(9):764-73. PubMed ID: 22850527
[TBL] [Abstract][Full Text] [Related]
3. De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.
Kanemasa H; Fukai R; Sakai Y; Torio M; Miyake N; Lee S; Ono H; Akamine S; Nishiyama K; Sanefuji M; Ishizaki Y; Torisu H; Saitsu H; Matsumoto N; Hara T
BMC Neurol; 2016 Sep; 16():174. PubMed ID: 27634470
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
Vetro A; Nielsen HN; Holm R; Hevner RF; Parrini E; Powis Z; Møller RS; Bellan C; Simonati A; Lesca G; Helbig KL; Palmer EE; Mei D; Ballardini E; Van Haeringen A; Syrbe S; Leuzzi V; Cioni G; Curry CJ; Costain G; Santucci M; Chong K; Mancini GMS; Clayton-Smith J; Bigoni S; Scheffer IE; Dobyns WB; Vilsen B; Guerrini R;
Brain; 2021 Jun; 144(5):1435-1450. PubMed ID: 33880529
[TBL] [Abstract][Full Text] [Related]
6. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL; Swoboda KJ; Hitomi Y; Gurrieri F; Nicole S; de Vries B; Tiziano FD; Fontaine B; Walley NM; Heavin S; Panagiotakaki E; ; ; ; Fiori S; Abiusi E; Di Pietro L; Sweney MT; Newcomb TM; Viollet L; Huff C; Jorde LB; Reyna SP; Murphy KJ; Shianna KV; Gumbs CE; Little L; Silver K; Ptáček LJ; Haan J; Ferrari MD; Bye AM; Herkes GK; Whitelaw CM; Webb D; Lynch BJ; Uldall P; King MD; Scheffer IE; Neri G; Arzimanoglou A; van den Maagdenberg AM; Sisodiya SM; Mikati MA; Goldstein DB
Nat Genet; 2012 Sep; 44(9):1030-4. PubMed ID: 22842232
[TBL] [Abstract][Full Text] [Related]
7. Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.
Chaumette B; Ferrafiat V; Ambalavanan A; Goldenberg A; Dionne-Laporte A; Spiegelman D; Dion PA; Gerardin P; Laurent C; Cohen D; Rapoport J; Rouleau GA
Mol Psychiatry; 2020 Apr; 25(4):821-830. PubMed ID: 29895895
[TBL] [Abstract][Full Text] [Related]
8. Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.
Marzin P; Mignot C; Dorison N; Dufour L; Ville D; Kaminska A; Panagiotakaki E; Dienpendaele AS; Penniello MJ; Nougues MC; Keren B; Depienne C; Nava C; Milh M; Villard L; Richelme C; Rivier C; Whalen S; Heron D; Lesca G; Doummar D
Brain Dev; 2018 Oct; 40(9):768-774. PubMed ID: 29861155
[TBL] [Abstract][Full Text] [Related]
9. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
Sweney MT; Newcomb TM; Swoboda KJ
Pediatr Neurol; 2015 Jan; 52(1):56-64. PubMed ID: 25447930
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.
Lazarov E; Hillebrand M; Schröder S; Ternka K; Hofhuis J; Ohlenbusch A; Barrantes-Freer A; Pardo LA; Fruergaard MU; Nissen P; Brockmann K; Gärtner J; Rosewich H
Neurobiol Dis; 2020 Sep; 143():105012. PubMed ID: 32653672
[TBL] [Abstract][Full Text] [Related]
12. ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
Huang D; Song X; Ma J; Li X; Guo Y; Li M; Luo H; Fang Z; Yang C; Xie L; Jiang L
Eur J Pediatr; 2023 Feb; 182(2):825-836. PubMed ID: 36484864
[TBL] [Abstract][Full Text] [Related]
13. Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
Ishii A; Saito Y; Mitsui J; Ishiura H; Yoshimura J; Arai H; Yamashita S; Kimura S; Oguni H; Morishita S; Tsuji S; Sasaki M; Hirose S
PLoS One; 2013; 8(2):e56120. PubMed ID: 23409136
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
Wei W; Zheng XF; Ruan DD; Gan YM; Zhang YP; Chen Y; Lin XF; Tang FQ; Luo JW; Li YF
Neurol Sci; 2022 Apr; 43(4):2555-2563. PubMed ID: 34783933
[TBL] [Abstract][Full Text] [Related]
17. Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.
Tran L; Richards J; McDonald M; McConkie-Rosell A; Stong N; Jasien J; Shashi V; Mikati MA
Epileptic Disord; 2020 Feb; 22(1):103-109. PubMed ID: 32043468
[TBL] [Abstract][Full Text] [Related]
18. Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.
Haq IU; Snively BM; Sweadner KJ; Suerken CK; Cook JF; Ozelius LJ; Miller C; McCall WV; Whitlow CT; Brashear A
Mov Disord; 2019 Oct; 34(10):1528-1536. PubMed ID: 31361359
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
