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 *

216 related articles for article (PubMed ID: 22899793)

  • 1. Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood.
    De Grandis E; Stagnaro M; Biancheri R; Giannotta M; Gobbi G; Traverso M; Veneselli E; Zara F
    J Child Neurol; 2013 Jul; 28(7):863-6. PubMed ID: 22899793
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC).
    Vuillaumier-Barrot S; Panagiotakaki E; Le Bizec C; El Baba C; ; Fontaine B; Arzimanoglou A; Seta N; Nicole S
    Neuropediatrics; 2010 Dec; 41(6):267-9. PubMed ID: 21445818
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
    Leen WG; Klepper J; Verbeek MM; Leferink M; Hofste T; van Engelen BG; Wevers RA; Arthur T; Bahi-Buisson N; Ballhausen D; Bekhof J; van Bogaert P; Carrilho I; Chabrol B; Champion MP; Coldwell J; Clayton P; Donner E; Evangeliou A; Ebinger F; Farrell K; Forsyth RJ; de Goede CG; Gross S; Grunewald S; Holthausen H; Jayawant S; Lachlan K; Laugel V; Leppig K; Lim MJ; Mancini G; Marina AD; Martorell L; McMenamin J; Meuwissen ME; Mundy H; Nilsson NO; Panzer A; Poll-The BT; Rauscher C; Rouselle CM; Sandvig I; Scheffner T; Sheridan E; Simpson N; Sykora P; Tomlinson R; Trounce J; Webb D; Weschke B; Scheffer H; Willemsen MA
    Brain; 2010 Mar; 133(Pt 3):655-70. PubMed ID: 20129935
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1.
    de Vries B; Haan J; Stam AH; Vanmolkot KR; Stroink H; Laan LA; Gill DS; Pascual J; Frants RR; van den Maagdenberg AM; Ferrari MD
    Neuropediatrics; 2006 Oct; 37(5):302-4. PubMed ID: 17236110
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy.
    Mullen SA; Marini C; Suls A; Mei D; Della Giustina E; Buti D; Arsov T; Damiano J; Lawrence K; De Jonghe P; Berkovic SF; Scheffer IE; Guerrini R
    Arch Neurol; 2011 Sep; 68(9):1152-5. PubMed ID: 21555602
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Sporadic and familial glut1ds Italian patients: A wide clinical variability.
    De Giorgis V; Teutonico F; Cereda C; Balottin U; Bianchi M; Giordano L; Olivotto S; Ragona F; Tagliabue A; Zorzi G; Nardocci N; Veggiotti P
    Seizure; 2015 Jan; 24():28-32. PubMed ID: 25564316
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Clinical and genetic characteristics of glucose transporter type 1 deficiency syndrome].
    Liu YY; Bao XH; Wang S; Fu N; Liu XY; Song FY; Yang YL; Wu Y; Zhang YH; Wu JX; Jiang YW; Qin J; Wu XR
    Zhonghua Er Ke Za Zhi; 2013 Jun; 51(6):443-7. PubMed ID: 24120063
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
    Arsov T; Mullen SA; Rogers S; Phillips AM; Lawrence KM; Damiano JA; Goldberg-Stern H; Afawi Z; Kivity S; Trager C; Petrou S; Berkovic SF; Scheffer IE
    Ann Neurol; 2012 Nov; 72(5):807-15. PubMed ID: 23280796
    [TBL] [Abstract][Full Text] [Related]  

  • 11. GLUT1 deficiency syndrome 2013: current state of the art.
    De Giorgis V; Veggiotti P
    Seizure; 2013 Dec; 22(10):803-11. PubMed ID: 23890838
    [TBL] [Abstract][Full Text] [Related]  

  • 12. From splitting GLUT1 deficiency syndromes to overlapping phenotypes.
    Hully M; Vuillaumier-Barrot S; Le Bizec C; Boddaert N; Kaminska A; Lascelles K; de Lonlay P; Cances C; des Portes V; Roubertie A; Doummar D; LeBihannic A; Degos B; de Saint Martin A; Flori E; Pedespan JM; Goldenberg A; Vanhulle C; Bekri S; Roubergue A; Heron B; Cournelle MA; Kuster A; Chenouard A; Loiseau MN; Valayannopoulos V; Chemaly N; Gitiaux C; Seta N; Bahi-Buisson N
    Eur J Med Genet; 2015 Sep; 58(9):443-54. PubMed ID: 26193382
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The many faces of Glut1 deficiency syndrome.
    Tzadok M; Nissenkorn A; Porper K; Matot I; Marcu S; Anikster Y; Menascu S; Bercovich D; Ben Zeev B
    J Child Neurol; 2014 Mar; 29(3):349-59. PubMed ID: 23340081
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?
    Becker F; Schubert J; Weckhuysen S; Suls A; Grüninger S; Korn-Merker E; Hofmann-Peters A; Sperner J; Cross H; Hallmann K; Elger CE; Kunz WS; Madeleyen R; Lerche H; Weber YG
    Epilepsy Res; 2015 Aug; 114():47-51. PubMed ID: 26088884
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review.
    Szczepanik E; Terczyńska I; Kruk M; Lipiec A; Dudko E; Tryfon J; Jurek M; Hoffman-Zacharska D
    Dev Period Med; 2015; 19(4):454-63. PubMed ID: 26982753
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.
    Panagiotakaki E; Gobbi G; Neville B; Ebinger F; Campistol J; Nevsímalová S; Laan L; Casaer P; Spiel G; Giannotta M; Fons C; Ninan M; Sange G; Schyns T; Vavassori R; Poncelin D; ; Arzimanoglou A
    Brain; 2010 Dec; 133(Pt 12):3598-610. PubMed ID: 20974617
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.