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

doi:10.1002/ana.10464

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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Abstract

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 language	English
Pages (from-to)	376-381
Number of pages	6
Journal	Annals of Neurology
Volume	53
Issue number	3
DOIs	https://doi.org/10.1002/ana.10464
Publication status	Published - Mar 1 2003

ASJC Scopus subject areas

Neuroscience(all)

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10.1002/ana.10464

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@article{01c040eb839447bea65826327bba6452,

title = "Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23",

abstract = "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.",

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

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T1 - Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

AU - Marconi, Roberto

AU - De Fusco, Maurizio

AU - Aridon, Paolo

AU - Plewnia, Katrin

AU - Rossi, Maja

AU - Carapelli, Sadia

AU - Ballabio, Andrea

AU - Morgante, Letterio

AU - Musolino, Rosa

AU - Epifanio, Antonio

AU - Micieli, Giuseppe

AU - De Michele, Giuseppe

AU - Casari, Giorgio

PY - 2003/3/1

Y1 - 2003/3/1

N2 - 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.

AB - 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.

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DO - 10.1002/ana.10464

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SN - 0364-5134

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EP - 381

JO - Annals of Neurology

JF - Annals of Neurology

IS - 3

ER -

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

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