Literature DB >> 15286158

A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood.

M T Bassi, N Bresolin, A Tonelli, K Nazos, F Crippa, C Baschirotto, C Zucca, A Bersano, D Dolcetta, F M Boneschi, V Barone, G Casari.   

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Year:  2004        PMID： 15286158      PMCID： PMC1735877          DOI： 10.1136/jmg.2003.017863

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  30 in total

1.  Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease.

Authors:  Mads S Toustrup-Jensen; Anja P Einholm; Vivien R Schack; Hang N Nielsen; Rikke Holm; María-Jesús Sobrido; Jens P Andersen; Torben Clausen; Bente Vilsen
Journal:  J Biol Chem       Date:  2013-12-19       Impact factor: 5.157

2.  Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine.

Authors:  Vivien Rodacker Schack; Rikke Holm; Bente Vilsen
Journal:  J Biol Chem       Date:  2011-11-23       Impact factor: 5.157

3.  No Mutation in the SLC2A3 Gene in Cohorts of GLUT1 Deficiency Syndrome-Like Patients Negative for SLC2A1 and in Patients with AHC Negative for ATP1A3.

Authors:  C Le Bizec; S Nicole; E Panagiotakaki; N Seta; S Vuillaumier-Barrot
Journal:  JIMD Rep       Date:  2013-09-04

Review 4.  Diagnosis and Treatment of Alternating Hemiplegia of Childhood.

Authors:  Melanie Masoud; Lyndsey Prange; Jeffrey Wuchich; Arsen Hunanyan; Mohamad A Mikati
Journal:  Curr Treat Options Neurol       Date:  2017-02       Impact factor: 3.598

Review 5.  Migraine genetics: an update.

Authors:  J Haan; E E Kors; Kaate R J Vanmolkot; Arn M J M van den Maagdenberg; Rune R Frants; M D Ferrari
Journal:  Curr Pain Headache Rep       Date:  2005-06

Review 6.  Ion channelopathies and migraine pathogenesis.

Authors:  Cassie L Albury; Shani Stuart; Larisa M Haupt; Lyn R Griffiths
Journal:  Mol Genet Genomics       Date:  2017-04-07       Impact factor: 3.291

7.  The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations.

Authors:  J Preben Morth; Hanne Poulsen; Mads S Toustrup-Jensen; Vivien Rodacker Schack; Jan Egebjerg; Jens Peter Andersen; Bente Vilsen; Poul Nissen
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2009-01-27       Impact factor: 6.237

8.  Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine.

Authors:  Maria-José Castro; Anine H Stam; Carolina Lemos; José Barros; Raquel G Gouveia; Isabel Pavão Martins; Jan B Koenderink; Kaate R J Vanmolkot; Alexandre P Mendes; Rune R Frants; Michel D Ferrari; Jorge Sequeiros; José M Pereira-Monteiro; Arn M J M van den Maagdenberg
Journal:  J Hum Genet       Date:  2007-10-19       Impact factor: 3.172

Review 9.  Distinct neurological disorders with ATP1A3 mutations.

Authors:  Erin L Heinzen; Alexis Arzimanoglou; Allison Brashear; Steven J Clapcote; Fiorella Gurrieri; David B Goldstein; Sigurður H Jóhannesson; Mohamad A Mikati; Brian Neville; Sophie Nicole; Laurie J Ozelius; Hanne Poulsen; Tsveta Schyns; Kathleen J Sweadner; Arn van den Maagdenberg; Bente Vilsen
Journal:  Lancet Neurol       Date:  2014-05       Impact factor: 44.182

Review 10.  Familial hemiplegic migraine.

Authors:  Daniela Pietrobon
Journal:  Neurotherapeutics       Date:  2007-04       Impact factor: 7.620
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