CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood

被引：46

作者：

de Vries, B. ^{[2
]}

Stam, A. H. ^{[1
]}

Beker, F. ^{[5
]}

van den Maagdenberg, A. M. J. M. ^{[1
,2
]}

Vanmolkot, K. R. J. ^{[2
]}

Laan, L. A. E. M. ^{[1
]}

Ginjaar, I. B. ^{[3
]}

Frants, R. R. ^{[2
]}

Lauffer, H. ^{[6
]}

Haan, J. ^{[1
,4
]}

Haas, J. P. ^{[5
]}

Terwindt, G. M. ^{[1
]}

Ferrari, M. D. ^{[1
]}

机构：

[1] Leiden Univ, Dept Neurol, Med Ctr, NL-2300 RC Leiden, Netherlands

[2] Leiden Univ, Dept Human Genet, Med Ctr, NL-2300 RC Leiden, Netherlands

[3] Leiden Univ, Ctr Human & Clin Genet, Med Ctr, NL-2300 RC Leiden, Netherlands

[4] Rijnland Hosp, Dept Neurol, Leiderdorp, Netherlands

[5] Ernst Moritz Arndt Univ Greifswald, Dept Paediat, Div Neonatol & Paediat Intens Care, Greifswald, Germany

[6] Ernst Moritz Arndt Univ Greifswald, Dept Paediat, Div Neuropaediat & Metab Dis, Greifswald, Germany

来源：

CEPHALALGIA | 2008年 / 28卷 / 08期

关键词：

AHC; CACNA1A; HM; mutation;

D O I：

10.1111/j.1468-2982.2008.01596.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Familial hemiplegic migraine (FHM) and alternating hemiplegia of childhood (AHC) are severe neurological disorders that share clinical features. Therefore, FHM genes are candidates for AHC. We performed mutation analysis in the CACNA1A gene in a monozygotic twin pair with clinical features overlapping with both AHC and FHM and identified a novel de novo CACNA1A mutation. We provide the first evidence that a CACNA1A mutation can cause atypical AHC, indicating an overlap of molecular mechanisms causing AHC and FHM. These results also suggest that CACNA1A mutation scanning is indicated in patients with a severe neurological phenotype that includes paroxysmal (alternating) hemiplegia.

引用

页码：887 / 891

页数：5

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