Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

Marconi, Roberto; Fusco, Maurizio De; Aridon, Paolo; Plewnia, Katrin; Rossi, Maja; Carapelli, Sadia; Ballabio, Andrea; Morgante, Francesca; Musolino, Rosa Fortunata; Epifanio, Antonio; Micieli, Giuseppe; Michele, Giuseppe De; Casari, Giorgio

doi:10.1002/ana.10464

Cited by 73 publications

(68 citation statements)

References 24 publications

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“…Roughly half of the FHM families have been linked to chromosome 19p13 (Joutel et Miguel Estevez · Kathy L. Gardner al. 1993), and analysis of other FHM families has shown evidence for linkage among 20%-30% of families to 1q21-23 (Ducros et al 1997;Gardner et al 2000;Marconi et al 2003). Additional FHM families not linked to chromosome 1q or 19p13 have also been reported (Ducros et al 1997).…”

Section: Introductionmentioning

confidence: 90%

Update on the genetics of migraine

Estevez

Gardner

2004

Human Genetics

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The field of migraine genetics has seen an explosion of information over the last year. In a recent breakthrough, missense mutations in a chromosome 1q23 gene, ATP1A2, encoding a Na+, K+-ATPase, have been identified in four distinct pedigrees with a rare form of familial hemiplegic migraine (FHM). ATP1A2 is expressed in the brain, like the voltage gated calcium channel gene, CACNA1A, previously identified as the first hemiplegic migraine gene (FHM1). The shared hemiplegic migraine phenotype of mutations in ATP1A2 and CACNA1A raises the possibility that they coordinately regulate ion homeostasis that determines susceptibility to the initiation of both migraine aura and the pain phase of migraine. For the more common and genetically complex forms of migraine, genome-wide screens have identified several new loci on 4q24, 6p12.2-21.1, 11q24, and 14q21.2-q22.3, suggesting additional migraine genes in these regions. In addition, a recent large case-control association study has linked single nucleotide polymorphisms in the insulin receptor/INSR gene with migraine. However, these polymorphisms do not result in detectable changes in receptor function. The continuing genetic identification of key proteins involved in migraine will refine our understanding of this common and sometimes debilitating disorder, which can strike during the most productive years of a person's life. Given the co-morbidity of migraine with depression and bipolar disorder, our knowledge of the causes of migraine may also contribute to our understanding of these disorders.

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Section: Introductionmentioning

confidence: 90%

Update on the genetics of migraine

Estevez

Gardner

2004

Human Genetics

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“…In four families with ATP1A2 mutations, age of onset has ranged from 2 to 15 years, and in one, benign infantile convulsions of infancy cosegregated with the phenotype. [7][8][9] The wide range of age of onset, the seizures observed in a subset of affected subjects, and the similar phenomenology of the movement disorder in FHM and AHC prompted us to evaluate a group of familial and sporadic AHC cases for mutations in the ATP1A2 gene. Here, we present clinical and molecular data from a Greek kindred with a novel ATP1A2 gene mutation and document exclusion of ATP1A2 mutations as a common cause of classic sporadic or familial forms of AHC.…”

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confidence: 99%

Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation

Swoboda

Kanavakis

Xaidara

et al. 2004

Annals of Neurology

156

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Alternating hemiplegia of childhood (AHC) is typically distinguished from familial hemiplegic migraine (FHM) by infantile onset of the characteristic symptoms and high prevalence of associated neurological deficits that become increasingly obvious with age. Expansion of the clinical spectrum in FHM recently has begun to blur the distinction between these disorders. We report a novel ATP1A2 mutation in a kindred with features that bridge the phenotypic spectrum between AHC and FHM syndromes, supporting a possible common pathogenesis in a subset of such cases. Mutation analysis in classic sporadic AHC patients and in an additional five kindreds in which linkage to the ATP1A2 locus could not be excluded failed to identify additional mutations.

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“…However, as noted by Terwindt et al [19], this mutation did not occur in all of the families. Subsequent chromosomal mapping and linkage analysis identified an additional locus on chromosome 1q31 [22] and chromosome 1q23 [23]. In 2003, Marconi et al [23] identified that the gene affected was the 2 subunit of the Na+/K+ pump (ATP1A2).…”

Section: Familial Hemiplegic Migraine-atp1a2mentioning

confidence: 98%

“…Subsequent chromosomal mapping and linkage analysis identified an additional locus on chromosome 1q31 [22] and chromosome 1q23 [23]. In 2003, Marconi et al [23] identified that the gene affected was the 2 subunit of the Na+/K+ pump (ATP1A2). The product of this gene was localized not at the synapse but rather in the astrocytes surrounding the nerve endings and connecting to the blood vessels.…”

Section: Familial Hemiplegic Migraine-atp1a2mentioning

confidence: 98%

Genetics of migraine headache in children

Hershey

2007

Current Science Inc

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A family history of migraine is very frequently noted when evaluating a child for recurrent headaches. This implies an inherited or genetic basis as a component to the underlying pathophysiology. A variety of techniques have begun to elucidate this contribution, including historical observation, population-based studies including family and twin studies, gene polymorphism association studies, and specific gene identification for isolated migraine subtypes. This line of investigation should progress in the future to a better understanding of migraine and clarification of the diagnostic subtypes for a genotype-phenotype association.

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Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

Cited by 73 publications

References 24 publications

Update on the genetics of migraine

Update on the genetics of migraine

Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation

Genetics of migraine headache in children

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