ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Paolo Aridon, Florence Marchelli, Florence Riant, Maurizio De Fusco, Paolo Aridon, Jacqueline Maciazek, Anne Ducros, Giorgio Casari, Elisabeth Tournier-Lasserve, Marie Germaine Bousser, Claire Ploton

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Abstract

Abstract Familial hemiplegic migraine (FHM) is an autosomal dominant form of migraine with aura. The disease is caused by mutations of at least three genes among which two have been identified, CACNA1A and ATP1A2. Very few mutations have been identified so far in ATP1A2. We screened the coding sequence of ATP1A2 in 26 unrelated FHM probands in whom CACNA1A screening was negative. A total of eight different mutations were identified in 11 of the probands (41%), including six missense mutations, one small deletion leading to a frameshift, and one in frame deletion. All were novel mutations. Two mutations were recurrent, in three and two families, respectively. Genotyping of 94 relatives of these 11 probands identified 47 mutation carriers, among whom 36 were clinically affected. Sequencing of all 23 exons in an ethnically matched panel detected only one exonic coding polymorphism.
Lingua originaleEnglish
pagine (da-a)281-286
RivistaHuman Mutation
Volume26(3)
Stato di pubblicazionePublished - 2005

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Migraine with Aura
Mutation
Missense Mutation
Migraine Disorders
Exons
Genes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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Aridon, P., Marchelli, F., Riant, F., De Fusco, M., Aridon, P., Maciazek, J., ... Ploton, C. (2005). ATP1A2 mutations in 11 families with familial hemiplegic migraine. Human Mutation, 26(3), 281-286.

ATP1A2 mutations in 11 families with familial hemiplegic migraine. / Aridon, Paolo; Marchelli, Florence; Riant, Florence; De Fusco, Maurizio; Aridon, Paolo; Maciazek, Jacqueline; Ducros, Anne; Casari, Giorgio; Tournier-Lasserve, Elisabeth; Bousser, Marie Germaine; Ploton, Claire.

In: Human Mutation, Vol. 26(3), 2005, pag. 281-286.

Risultato della ricerca: Article

Aridon, P, Marchelli, F, Riant, F, De Fusco, M, Aridon, P, Maciazek, J, Ducros, A, Casari, G, Tournier-Lasserve, E, Bousser, MG & Ploton, C 2005, 'ATP1A2 mutations in 11 families with familial hemiplegic migraine.', Human Mutation, vol. 26(3), pagg. 281-286.
Aridon P, Marchelli F, Riant F, De Fusco M, Aridon P, Maciazek J e altri. ATP1A2 mutations in 11 families with familial hemiplegic migraine. Human Mutation. 2005;26(3):281-286.
Aridon, Paolo ; Marchelli, Florence ; Riant, Florence ; De Fusco, Maurizio ; Aridon, Paolo ; Maciazek, Jacqueline ; Ducros, Anne ; Casari, Giorgio ; Tournier-Lasserve, Elisabeth ; Bousser, Marie Germaine ; Ploton, Claire. / ATP1A2 mutations in 11 families with familial hemiplegic migraine. In: Human Mutation. 2005 ; Vol. 26(3). pagg. 281-286.
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abstract = "Abstract Familial hemiplegic migraine (FHM) is an autosomal dominant form of migraine with aura. The disease is caused by mutations of at least three genes among which two have been identified, CACNA1A and ATP1A2. Very few mutations have been identified so far in ATP1A2. We screened the coding sequence of ATP1A2 in 26 unrelated FHM probands in whom CACNA1A screening was negative. A total of eight different mutations were identified in 11 of the probands (41{\%}), including six missense mutations, one small deletion leading to a frameshift, and one in frame deletion. All were novel mutations. Two mutations were recurrent, in three and two families, respectively. Genotyping of 94 relatives of these 11 probands identified 47 mutation carriers, among whom 36 were clinically affected. Sequencing of all 23 exons in an ethnically matched panel detected only one exonic coding polymorphism.",
author = "Paolo Aridon and Florence Marchelli and Florence Riant and {De Fusco}, Maurizio and Paolo Aridon and Jacqueline Maciazek and Anne Ducros and Giorgio Casari and Elisabeth Tournier-Lasserve and Bousser, {Marie Germaine} and Claire Ploton",
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T1 - ATP1A2 mutations in 11 families with familial hemiplegic migraine.

AU - Aridon, Paolo

AU - Marchelli, Florence

AU - Riant, Florence

AU - De Fusco, Maurizio

AU - Aridon, Paolo

AU - Maciazek, Jacqueline

AU - Ducros, Anne

AU - Casari, Giorgio

AU - Tournier-Lasserve, Elisabeth

AU - Bousser, Marie Germaine

AU - Ploton, Claire

PY - 2005

Y1 - 2005

N2 - Abstract Familial hemiplegic migraine (FHM) is an autosomal dominant form of migraine with aura. The disease is caused by mutations of at least three genes among which two have been identified, CACNA1A and ATP1A2. Very few mutations have been identified so far in ATP1A2. We screened the coding sequence of ATP1A2 in 26 unrelated FHM probands in whom CACNA1A screening was negative. A total of eight different mutations were identified in 11 of the probands (41%), including six missense mutations, one small deletion leading to a frameshift, and one in frame deletion. All were novel mutations. Two mutations were recurrent, in three and two families, respectively. Genotyping of 94 relatives of these 11 probands identified 47 mutation carriers, among whom 36 were clinically affected. Sequencing of all 23 exons in an ethnically matched panel detected only one exonic coding polymorphism.

AB - Abstract Familial hemiplegic migraine (FHM) is an autosomal dominant form of migraine with aura. The disease is caused by mutations of at least three genes among which two have been identified, CACNA1A and ATP1A2. Very few mutations have been identified so far in ATP1A2. We screened the coding sequence of ATP1A2 in 26 unrelated FHM probands in whom CACNA1A screening was negative. A total of eight different mutations were identified in 11 of the probands (41%), including six missense mutations, one small deletion leading to a frameshift, and one in frame deletion. All were novel mutations. Two mutations were recurrent, in three and two families, respectively. Genotyping of 94 relatives of these 11 probands identified 47 mutation carriers, among whom 36 were clinically affected. Sequencing of all 23 exons in an ethnically matched panel detected only one exonic coding polymorphism.

UR - http://hdl.handle.net/10447/26989

M3 - Article

VL - 26(3)

SP - 281

EP - 286

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

ER -

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