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

Research output: Contribution to journalArticle

72 Citations (Scopus)

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 languageEnglish
Pages (from-to)376-381
Number of pages6
JournalAnnals of Neurology
Volume53
Issue number3
DOIs
Publication statusPublished - Mar 1 2003

Fingerprint

Migraine with Aura
Chromosomes
Calsequestrin
Chromosomes, Human, Pair 19
Mutation
Chromosome Mapping
Potassium Channels
Paresis
Calcium Channels
Headache
Genes
Familial type 2 Hemiplegic migraine

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Marconi, R., De Fusco, M., Aridon, P., Plewnia, K., Rossi, M., Carapelli, S., ... Casari, G. (2003). Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23. Annals of Neurology, 53(3), 376-381. https://doi.org/10.1002/ana.10464

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

In: Annals of Neurology, Vol. 53, No. 3, 01.03.2003, p. 376-381.

Research output: Contribution to journalArticle

Marconi, R, De Fusco, M, Aridon, P, Plewnia, K, Rossi, M, Carapelli, S, Ballabio, A, Morgante, L, Musolino, R, Epifanio, A, Micieli, G, De Michele, G & Casari, G 2003, 'Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23', Annals of Neurology, vol. 53, no. 3, pp. 376-381. https://doi.org/10.1002/ana.10464
Marconi R, De Fusco M, Aridon P, Plewnia K, Rossi M, Carapelli S et al. Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23. Annals of Neurology. 2003 Mar 1;53(3):376-381. https://doi.org/10.1002/ana.10464
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. / Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23. In: Annals of Neurology. 2003 ; Vol. 53, No. 3. pp. 376-381.
@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",
year = "2003",
month = "3",
day = "1",
doi = "10.1002/ana.10464",
language = "English",
volume = "53",
pages = "376--381",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "3",

}

TY - JOUR

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.

UR - http://www.scopus.com/inward/record.url?scp=0037371121&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0037371121&partnerID=8YFLogxK

U2 - 10.1002/ana.10464

DO - 10.1002/ana.10464

M3 - Article

C2 - 12601705

AN - SCOPUS:0037371121

VL - 53

SP - 376

EP - 381

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 3

ER -