BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

243 related articles for article (PubMed ID: 33578253)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 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. 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]  

  • 14. Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
    Panagiotakaki E; Tiziano FD; Mikati MA; Vijfhuizen LS; Nicole S; Lesca G; Abiusi E; Novelli A; Di Pietro L; ; ; Harder AVE; Walley NM; De Grandis E; Poulat AL; Portes VD; Lépine A; Nassogne MC; Arzimanoglou A; Vavassori R; Koenderink J; Thompson CH; George AL; Gurrieri F; van den Maagdenberg AMJM; Heinzen EL
    Eur J Hum Genet; 2024 Feb; 32(2):224-231. PubMed ID: 38097767
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Clinical spectrum in three families with familial hemiplegic migraine type 2 including a novel mutation in the ATP1A2 gene.
    Roth C; Freilinger T; Kirovski G; Dunkel J; Shah Y; Wilken B; Rautenstrauß B; Ferbert A
    Cephalalgia; 2014 Mar; 34(3):183-90. PubMed ID: 24096472
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood.
    Weller CM; Leen WG; Neville BG; Duncan JS; de Vries B; Geilenkirchen MA; Haan J; Kamsteeg EJ; Ferrari MD; van den Maagdenberg AM; Willemsen MA; Scheffer H; Terwindt GM
    Cephalalgia; 2015 Jan; 35(1):10-5. PubMed ID: 24824604
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.