Go to:
Logótipo
Comuta visibilidade da coluna esquerda
Você está em: Start > Publications > View > Novel recurrent mutation in ATP1A2 gene in a Portuguese family with familiar hemiplegic migraine type 2 [Nova mutação recorrente no gene ATP1A2 numa familia portuguesa com enxaqueca hemiplégica familiar tipo 2]
Publication

Publications

Novel recurrent mutation in ATP1A2 gene in a Portuguese family with familiar hemiplegic migraine type 2 [Nova mutação recorrente no gene ATP1A2 numa familia portuguesa com enxaqueca hemiplégica familiar tipo 2]

Title
Novel recurrent mutation in ATP1A2 gene in a Portuguese family with familiar hemiplegic migraine type 2 [Nova mutação recorrente no gene ATP1A2 numa familia portuguesa com enxaqueca hemiplégica familiar tipo 2]
Type
Article in International Scientific Journal
Year
2006
Authors
Castro, MJ
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Barros, J
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Mendes, A
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Vanmolkot, K
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Frants, R
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Sequeiros, J
(Author)
ICBAS
View Personal Page You do not have permissions to view the institutional email. Search for Participant Publications View Authenticus page View ORCID page
Monteiro, JP
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
van den Maagdenberg, A
(Author)
Other
The person does not belong to the institution. The person does not belong to the institution. The person does not belong to the institution. Without AUTHENTICUS Without ORCID
Journal
Title: SinapseImported from Authenticus Search for Journal Publications
Vol. 6
Pages: 4-10
ISSN: 1645-281X
Indexing
Publicação em Scopus Scopus - 0 Citations
Other information
Authenticus ID: P-007-GQC
Abstract (EN): Introduction: Familial Hemiplegic Migraine (FHM) is an autosomal dominant subtype of migraine with aura, with hemiparesis characterizing the attacks. Genetic studies in families of different origins have contributed for the localization of loci and genes responsible for the disease. The majority of the families affected with FHM and additional cerebellar signs that are linked to 19p13 locus (FHM1) show mutations in CACNA1A gene. On the other hand, families with pure FHM linked to 1q23 locus (FHM2) present genetic variants in ATP1A2 gene. Recently, a mutation in SCN1A gene was associated with FHM (FHM3), supporting the hypothesis that alterations in the ionic homeostasis contribute for the pathogenic mechanism of the disease. For FHM1 several recurrent mutations have been described and allow a more accurate genotype-phenotype correlation. However, for the remaining FHM types only the study of additional families and/or finding recurrent mutations will allow to understand the true importance of each gene for migraine clinical expression. Objective: This work aimed to study the involvement of ATP1A2 gene in a Portuguese family with pure FHM. Patients and Methods: Genetic markers located in the 1q23 region were genotyped for some family members and haplotype analysis was established. Scanning for mutations in the ATP1A2 gene was performed by direct sequencing, using genomic DNA of one patient of the family. Results: We identified the M731T missense mutation, previously described in a Dutch family with pure FHM, which is responsible for the disease in our family. Comparison of haplotypes of both the Dutch and the Portuguese family with the M731T mutation indicated that the mutation is recurrent rather than result of a common founder effect. Conclusion: The association of M731T mutation with pure FHM suggests the preferential study of this mutation in novel FHM Portuguese cases presenting this phenotype.
Language: Portuguese
Type (Professor's evaluation): Scientific
Documents
We could not find any documents associated to the publication.
Related Publications

Of the same journal

Serendipity and the Art of Clinical Neurology [Serendipidade e a Arte da Neurologia Clínica] (2022)
Another Publication in an International Scientific Journal
Rui Araújo
Neuroanatomia de uma obra prima (2018)
Another Publication in an International Scientific Journal
João Massano

See all (27)

Recommend this page Top
Copyright 1996-2025 © Faculdade de Direito da Universidade do Porto  I Terms and Conditions  I Acessibility  I Index A-Z
Page created on: 2025-08-07 at 00:44:29 | Privacy Policy | Personal Data Protection Policy | Whistleblowing