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3. 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]
4. ATP1A3 mosaicism in families with alternating hemiplegia of childhood. Yang X; Yang X; Chen J; Li S; Zeng Q; Huang AY; Ye AY; Yu Z; Wang S; Jiang Y; Wu X; Wu Q; Wei L; Zhang Y Clin Genet; 2019 Jul; 96(1):43-52. PubMed ID: 30891744 [TBL] [Abstract][Full Text] [Related]
5. [ATP1A3 gene mutations in patients with alternating hemiplegia of childhood]. Yang X; Zhang Y; Yuan D; Xu X; Li S; Wei L; Wu Y; Xiong H; Liu X; Bao X; Jiang Y; Wu X Zhonghua Er Ke Za Zhi; 2015 Nov; 53(11):835-9. PubMed ID: 26758322 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2. Pavone P; Pappalardo XG; Incorpora G; Falsaperla R; Marino SD; Corsello G; Parano E; Ruggieri M Eur J Med Genet; 2020 Aug; 63(8):103957. PubMed ID: 32454213 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients. Calame DG; Houck K; Lotze T; Emrick L; Parnes M Eur J Paediatr Neurol; 2021 Mar; 31():21-26. PubMed ID: 33578253 [TBL] [Abstract][Full Text] [Related]
11. Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status. Hoei-Hansen CE; Dali CÍ; Lyngbye TJ; Duno M; Uldall P Eur J Paediatr Neurol; 2014 Jan; 18(1):50-4. PubMed ID: 24100174 [TBL] [Abstract][Full Text] [Related]
12. ATP1A3 mutation in a Chinese girl with alternating hemiplegia of childhood--Potential target of treatment? Wong VC; Kwong AK Brain Dev; 2015 Oct; 37(9):907-10. PubMed ID: 25662428 [TBL] [Abstract][Full Text] [Related]
13. Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. Vila-Pueyo M; Pons R; Raspall-Chaure M; Marcé-Grau A; Carreño O; Sintas C; Cormand B; Pineda-Marfà M; Macaya A J Neurol Sci; 2014 Sep; 344(1-2):37-42. PubMed ID: 24996492 [TBL] [Abstract][Full Text] [Related]
14. ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients. Yang X; Gao H; Zhang J; Xu X; Liu X; Wu X; Wei L; Zhang Y PLoS One; 2014; 9(5):e97274. PubMed ID: 24842602 [TBL] [Abstract][Full Text] [Related]
15. Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood. Simmons CQ; Thompson CH; Cawthon BE; Westlake G; Swoboda KJ; Kiskinis E; Ess KC; George AL Neurobiol Dis; 2018 Jul; 115():29-38. PubMed ID: 29567111 [TBL] [Abstract][Full Text] [Related]
20. Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood. Di Michele M; Goubau C; Waelkens E; Thys C; De Vos R; Overbergh L; Schyns T; Buyse G; Casaer P; Van Geet C; Freson K J Proteomics; 2013 Jun; 86():53-69. PubMed ID: 23681173 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]