Literature DB >> 15159495

Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants.

K Jurkat-Rott1, T Freilinger, J P Dreier, J Herzog, H Göbel, G C Petzold, P Montagna, T Gasser, F Lehmann-Horn, M Dichgans.   

Abstract

A1A2 Na+/K+-ATPase mutations cause familial hemiplegic migraine type 2 (FHM2). The authors identified three putative A1A2 mutations (D718N, R763H, P979L) and three that await validation (P796R, E902K, X1021R). Ten to 20% of FHM cases may be FHM2. A1A2 mutations have a penetrance of about 87%. D718N causes frequent, long-lasting HM, and P979L may cause recurrent coma. D718N and P979L may predispose to seizures and mental retardation. A1A2 does not play a major role in sporadic HM; only one variant, R383H, occurred in 1 of 24 cases.

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Year:  2004        PMID： 15159495     DOI： 10.1212/01.wnl.0000127310.11526.fd

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  41 in total

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Journal:  Nervenarzt       Date:  2006-10       Impact factor: 1.214

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

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Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2009-01-27       Impact factor: 6.237

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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
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Review 6.  Genetics of headache in children: where are we headed?

Authors:  Andrew D Hershey
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Review 7.  Genetics of migraine headache in children.

Authors:  Andrew D Hershey
Journal:  Curr Pain Headache Rep       Date:  2007-10

8.  Familial and sporadic hemiplegic migraine: diagnosis and treatment.

Authors:  Nadine Pelzer; Anine H Stam; Joost Haan; Michel D Ferrari; Gisela M Terwindt
Journal:  Curr Treat Options Neurol       Date:  2013-02       Impact factor: 3.598

Review 9.  Molecular genetics of migraine.

Authors:  Boukje de Vries; Rune R Frants; Michel D Ferrari; Arn M J M van den Maagdenberg
Journal:  Hum Genet       Date:  2009-05-20       Impact factor: 4.132

10.  Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.

Authors:  Lesley J Ashmore; Stacy L Hrizo; Sarah M Paul; Wayne A Van Voorhies; Greg J Beitel; Michael J Palladino
Journal:  Hum Genet       Date:  2009-05-12       Impact factor: 4.132
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