BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

182 related articles for article (PubMed ID: 28811059)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.
    Dai L; Ding C; Tian X; Liu M; Ma Y; Chen C; Ren X; Li H
    Brain Dev; 2023 Sep; 45(8):422-431. PubMed ID: 37142513
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.
    Costa C; Prontera P; Sarchielli P; Tonelli A; Bassi MT; Cupini LM; Caproni S; Siliquini S; Donti E; Calabresi P
    Cephalalgia; 2014 Jan; 34(1):68-72. PubMed ID: 23918834
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
    Furukawa S; Kato M; Nomura T; Sumitomo N; Yoneno S; Nakashima M; Saitsu H
    Am J Med Genet A; 2024 Mar; 194(3):e63453. PubMed ID: 37870493
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.
    Swoboda KJ; Kanavakis E; Xaidara A; Johnson JE; Leppert MF; Schlesinger-Massart MB; Ptacek LJ; Silver K; Youroukos S
    Ann Neurol; 2004 Jun; 55(6):884-7. PubMed ID: 15174025
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Alternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2.
    Kors EE; Vanmolkot KR; Haan J; Kheradmand Kia S; Stroink H; Laan LA; Gill DS; Pascual J; van den Maagdenberg AM; Frants RR; Ferrari MD
    Neuropediatrics; 2004 Oct; 35(5):293-6. PubMed ID: 15534763
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation.
    De Sanctis S; Grieco GS; Breda L; Casali C; Nozzi M; Del Torto M; Chiarelli F; Verrotti A
    Headache; 2011 Mar; 51(3):447-450. PubMed ID: 21352219
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation.
    de Vries B; Stam AH; Kirkpatrick M; Vanmolkot KR; Koenderink JB; van den Heuvel JJ; Stunnenberg B; Goudie D; Shetty J; Jain V; van Vark J; Terwindt GM; Frants RR; Haan J; van den Maagdenberg AM; Ferrari MD
    Epilepsia; 2009 Nov; 50(11):2503-4. PubMed ID: 19874388
    [No Abstract]   [Full Text] [Related]  

  • 14. A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.
    Chatron N; Cabet S; Alix E; Buenerd A; Cox P; Guibaud L; Labalme A; Marks P; Osio D; Putoux A; Sanlaville D; Lesca G; Vasiljevic A
    Brain; 2019 Nov; 142(11):3367-3374. PubMed ID: 31608932
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms.
    Li Y; Tang W; Kang L; Kong S; Dong Z; Zhao D; Liu R; Yu S
    J Headache Pain; 2021 Aug; 22(1):92. PubMed ID: 34384358
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients.
    Córdoba NM; Lince-Rivera I; Gómez JLR; Rubboli G; De la Rosa SO
    Epileptic Disord; 2024 Jun; 26(3):332-340. PubMed ID: 38512072
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Epilepsy as part of the phenotype associated with ATP1A2 mutations.
    Deprez L; Weckhuysen S; Peeters K; Deconinck T; Claeys KG; Claes LR; Suls A; Van Dyck T; Palmini A; Matthijs G; Van Paesschen W; De Jonghe P
    Epilepsia; 2008 Mar; 49(3):500-8. PubMed ID: 18028407
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Clinical Benefit of NMDA Receptor Antagonists in a Patient With
    Ueda K; Serajee F; Huq AM
    Pediatrics; 2018 Apr; 141(Suppl 5):S390-S394. PubMed ID: 29610157
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.