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2. A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever. Nakamura Y; Hattori A; Nakashima M; Ieda D; Hori I; Negishi Y; Ando N; Matsumoto N; Saitoh S Brain Dev; 2018 Mar; 40(3):222-225. PubMed ID: 29066118 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation. Yano ST; Silver K; Young R; DeBrosse SD; Ebel RS; Swoboda KJ; Acsadi G Pediatr Neurol; 2017 Aug; 73():101-105. PubMed ID: 28647130 [TBL] [Abstract][Full Text] [Related]
5. Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review. Biela M; Rydzanicz M; Szymanska K; Pieniawska-Smiech K; Lewandowicz-Uszynska A; Chruszcz J; Benben L; Kuzior-Plawiak M; Szyld P; Jakubiak A; Szenborn L; Ploski R; Smigiel R Mol Genet Genomic Med; 2021 Sep; 9(9):e1772. PubMed ID: 34342181 [TBL] [Abstract][Full Text] [Related]
6. [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]
8. ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children. Sasaki M; Sumitomo N; Shimizu-Motohashi Y; Takeshita E; Kurosawa K; Kosaki K; Iwama K; Mizuguchi T; Matsumoto N Dev Med Child Neurol; 2021 Jan; 63(1):111-115. PubMed ID: 32895939 [TBL] [Abstract][Full Text] [Related]
9. A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations. Tahir S; Chencheri N; Abdalla AA; O E Babiker M Cureus; 2021 Dec; 13(12):e20438. PubMed ID: 35047275 [TBL] [Abstract][Full Text] [Related]
10. Evaluating Dysfunction in Fever-Induced Paroxysmal Weakness and Encephalopathy. Sano F; Fukao T; Yagasaki H; Kanemura H; Inukai T; Kaga Y; Nakane T Children (Basel); 2023 Apr; 10(4):. PubMed ID: 37189952 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3. Sabouraud P; Riquet A; Spitz MA; Deiva K; Nevsimalova S; Mignot C; Lesca G; Bednarek N; Doummar D; Pietrement C; Laugel V Eur J Paediatr Neurol; 2019 May; 23(3):448-455. PubMed ID: 30862413 [TBL] [Abstract][Full Text] [Related]
13. Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation. Dard R; Mignot C; Durr A; Lesca G; Sanlaville D; Roze E; Mochel F Dev Med Child Neurol; 2015 Dec; 57(12):1183-6. PubMed ID: 26400718 [TBL] [Abstract][Full Text] [Related]
14. Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review. Pavone P; Pappalardo XG; Ruggieri M; Falsaperla R; Parano E Medicine (Baltimore); 2022 Aug; 101(31):e29413. PubMed ID: 35945798 [TBL] [Abstract][Full Text] [Related]
15. Novel pregnancy-triggered episodes of CAPOS syndrome. Chang IJ; Adam MP; Jayadev S; Bird TD; Natarajan N; Glass IA Am J Med Genet A; 2018 Jan; 176(1):235-240. PubMed ID: 29090527 [TBL] [Abstract][Full Text] [Related]
16. Chinese patients with p.Arg756 mutations of Zhang W; Li J; Zhuo X; Zhou J; Feng W; Gong S; Ren X; Ding C; Han T; Fang F Pediatr Investig; 2022 Mar; 6(1):5-10. PubMed ID: 35382416 [TBL] [Abstract][Full Text] [Related]
17. Fever-related ataxia: a case report of CAPOS syndrome. Stenshorne I; Rasmussen M; Salvanos P; Tallaksen CME; Bindoff LA; Koht J Cerebellum Ataxias; 2019; 6():2. PubMed ID: 31410291 [TBL] [Abstract][Full Text] [Related]