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

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

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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.

Original languageEnglish
Pages (from-to)376-381
Number of pages6
JournalAnnals of Neurology
Issue number3
Publication statusPublished - Mar 1 2003

ASJC Scopus subject areas

  • Neuroscience(all)


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