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Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23
Author(s) -
Marconi Roberto,
De Fusco Maurizio,
Aridon Paolo,
Plewnia Katrin,
Rossi Maja,
Carapelli Sadia,
Ballabio Andrea,
Morgante Letterio,
Musolino Rosa,
Epifanio Antonio,
Micieli Giuseppe,
De Michele Giuseppe,
Casari Giorgio
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10464
Subject(s) - familial hemiplegic migraine , locus (genetics) , genetics , migraine with aura , genetic linkage , gene , biology , migraine , aura , medicine
Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder characterized by episodes of transient hemiparesis followed by headache. Two chromosomal loci are associated to FHM: FHM1 on chromosome 19 and FHM2 on chromosome 1q21‐23. Mutations of the α‐1A subunit of the voltage gated calcium channel (CACNA1A) are responsible for FHM1. FHM2 critical region spans 28cM, hence hampering the identification of the responsible gene. Here, we report the FHM2 locus refining by linkage analysis on two large Italian families affected by pure FHM. The new critical region covers a small area of 0.9Mb in 1q23 and renders feasible a positional candidate approach. By mutation analysis, we excluded the calsequestrin and two potassium channel genes mapping within the narrowed FHM2 locus. Ann Neurol 2003