Familial basilar migraine associated with a new mutation in the ATP1A2 gene

被引:75
作者
Ambrosini, A
D'Onofrio, M
Grieco, GS
Di Mambro, A
Montagna, G
Fortini, D
Nicoletti, F
Nappi, G
Sances, G
Schoenen, J
Buzzi, MG
Santorelli, FM
Pierelli, F
机构
[1] INM Neuromed, Headache Clin, I-86077 Pozzilli, Isernia, Italy
[2] INM Neuromed, Res Ctr, Neuropharmacol Unit, I-86077 Pozzilli, Isernia, Italy
[3] European Brain Res Inst, Rome, Italy
[4] IRCCS C Mondino, Rome, Italy
[5] IRCCS Bambino Gesu, Rome, Italy
[6] Univ Roma La Sapienza, Dept Human Physiol & Pharmacol, Univ Ctr Adapt Disorders & Headache, Rome, Italy
[7] Univ Roma La Sapienza, Dept Neurol & ORL, Univ Ctr Adapt Disorders & Headache, Rome, Italy
[8] Univ Ctr Adapt Disorders & Headache, IRCCS C Mondino, Pavia, Italy
[9] Univ Liege, Headache Res Unit, Dept Neurol, Liege, Belgium
[10] Univ Liege, Dept Neuroanat, Liege, Belgium
[11] IRCCS Santa Lucia Fdn, Rome, Italy
关键词
D O I
10.1212/01.wnl.0000187072.71931.c0
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) are phenotypically similar subtypes of migraine with aura, differentiated only by motor symptoms, which are absent in BM. Mutations in CACNA1A and ATP1A2 have been found in FHM. The authors detected a novel mutation in the ATP1A2 gene (R548H) in members of a family with BM, suggesting that BM and FHM may be allelic disorders.
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收藏
页码:1826 / 1828
页数:3
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