These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

321 related articles for article (PubMed ID: 29395663)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. [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]  

  • 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. 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]  

  • 9. 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]  

  • 10. 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]  

  • 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. 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]  

  • 13. 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]  

  • 14. Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
    Arystarkhova E; Haq IU; Luebbert T; Mochel F; Saunders-Pullman R; Bressman SB; Feschenko P; Salazar C; Cook JF; Demarest S; Brashear A; Ozelius LJ; Sweadner KJ
    Neurobiol Dis; 2019 Dec; 132():104577. PubMed ID: 31425744
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. [Alternating hemiplegia].
    Kulikova SL; Likhachev SA; Kashyna AR
    Zh Nevrol Psikhiatr Im S S Korsakova; 2020; 120(3):72-76. PubMed ID: 32323947
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.