Literature DB >> 16344534

Familial basilar migraine associated with a new mutation in the ATP1A2 gene.

A Ambrosini1, M D'Onofrio, G S Grieco, A Di Mambro, G Montagna, D Fortini, F Nicoletti, G Nappi, G Sances, J Schoenen, M G Buzzi, F M Santorelli, F Pierelli.   

Abstract

Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) are phenotypically similar subtypes of migraine with aura, differentiated only by motor symptoms, which are absent in BM. Mutations in CACNA1A and ATP1A2 have been found in FHM. The authors detected a novel mutation in the ATP1A2 gene (R548H) in members of a family with BM, suggesting that BM and FHM may be allelic disorders.

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Year:  2005        PMID： 16344534     DOI： 10.1212/01.wnl.0000187072.71931.c0

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


  31 in total

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Authors:  Robert G Kaniecki
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Review 2.  The cerebellum and migraine.

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Journal:  Headache       Date:  2007-06       Impact factor: 5.887

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

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

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

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Journal:  J Hum Genet       Date:  2007-10-19       Impact factor: 3.172

5.  Migraineurs without aura show microstructural abnormalities in the cerebellum and frontal lobe.

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Journal:  Cerebellum       Date:  2013-12       Impact factor: 3.847

Review 6.  Unusual headache syndromes in children.

Authors:  Michelle Brenner; Christopher Oakley; Donald W Lewis
Journal:  Curr Pain Headache Rep       Date:  2007-10

7.  Common polygenic variation contributes to risk of migraine in the Norfolk Island population.

Authors:  A J Rodriguez-Acevedo; M A Ferreira; Miles C Benton; Melanie A Carless; Harald H Goring; Joanne E Curran; John Blangero; R A Lea; L R Griffiths
Journal:  Hum Genet       Date:  2015-07-29       Impact factor: 4.132

Review 8.  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

Review 9.  Episodic movement disorders: from phenotype to genotype and back.

Authors:  Knut Brockmann
Journal:  Curr Neurol Neurosci Rep       Date:  2013-10       Impact factor: 5.081

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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