BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

287 related articles for article (PubMed ID: 28637637)

  • 1. Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations.
    Pavlidis E; Uldall P; Gøbel Madsen C; Nikanorova M; Fabricius M; Høgenhaven H; Pisani F; Møller RS; Gardella E; Rubboli G
    Epileptic Disord; 2017 Jun; 19(2):226-230. PubMed ID: 28637637
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.
    Wilbur C; Buerki SE; Guella I; Toyota EB; Evans DM; McKenzie MB; Datta A; Michoulas A; Adam S; Van Allen MI; Nelson TN; Farrer MJ; Connolly MB; Demos M
    Pediatr Neurol; 2017 Oct; 75():87-90. PubMed ID: 28811059
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Novel E815K knock-in mouse model of alternating hemiplegia of childhood.
    Helseth AR; Hunanyan AS; Adil S; Linabarger M; Sachdev M; Abdelnour E; Arehart E; Szabo M; Richardson J; Wetsel WC; Hochgeschwender U; Mikati MA
    Neurobiol Dis; 2018 Nov; 119():100-112. PubMed ID: 30071271
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia.
    Zhang X; Qiu S; Yang L; Li Y; Xu L; Xu N; Mi C; Li M
    Mol Genet Genomic Med; 2023 May; 11(5):e2146. PubMed ID: 36749827
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Progression of alternating hemiplegia of childhood-related focal epilepsy to electrical status epilepticus in sleep with reversible encephalopathy.
    Neupert D; Abbassi P; Prange L; Flamini R; Mikati MA
    Epileptic Disord; 2022 Feb; 24(1):183-190. PubMed ID: 34789444
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].
    Ulate-Campos A; Fons C; Campistol J; Martorell L; Cancho-Candela R; Eiris J; López-Laso E; Pineda M; Sans A; Velázquez R
    Med Clin (Barc); 2014 Jul; 143(1):25-8. PubMed ID: 24768197
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A wide clinical phenotype spectrum in patients with ATP1A2 mutations.
    Al-Bulushi B; Al-Hashem A; Tabarki B
    J Child Neurol; 2014 Feb; 29(2):265-8. PubMed ID: 24097848
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation.
    Ju J; Hirose S; Shi XY; Ishii A; Hu LY; Zou LP
    Orphanet J Rare Dis; 2016 May; 11(1):55. PubMed ID: 27146299
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Alternating hemiplegia of childhood: new diagnostic options.
    Gergont A; Kaciński M
    Neurol Neurochir Pol; 2014; 48(2):130-5. PubMed ID: 24821639
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3.
    Parfyonov M; Ivaniuk A; Parikh S; Pestana-Knight E
    Epileptic Disord; 2023 Aug; 25(4):545-548. PubMed ID: 37293976
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
    Jaffer F; Avbersek A; Vavassori R; Fons C; Campistol J; Stagnaro M; De Grandis E; Veneselli E; Rosewich H; Gianotta M; Zucca C; Ragona F; Granata T; Nardocci N; Mikati M; Helseth AR; Boelman C; Minassian BA; Johns S; Garry SI; Scheffer IE; Gourfinkel-An I; Carrilho I; Aylett SE; Parton M; Hanna MG; Houlden H; Neville B; Kurian MA; Novy J; Sander JW; Lambiase PD; Behr ER; Schyns T; Arzimanoglou A; Cross JH; Kaski JP; Sisodiya SM
    Brain; 2015 Oct; 138(Pt 10):2859-74. PubMed ID: 26297560
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 15.