Work

CACNA1A Mutation Linking Hemiplegic Migraine and Alternating Hemiplegia of Childhood

Year: 2008

Type: article

Abstract: 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.

Source: Cephalalgia

DOI: 10.1111/j.1468-2982.2008.01596.x

Authors: B de Vries, AH Stam, F Beker, AMJM van den Maagdenberg, KRJ Vanmolkot, LAEM Laan, IB Ginjaar, RR Frants, H Lauffer, J Haan, JP Haas, GM Terwindt, MD Ferrari

Institutions: Leiden University Medical Center, Universität Greifswald, Rijnland Ziekenhuis

Language: English

Topic: Migraine and Headache Studies

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W1989088473

FWCI: 3.037

Cites: 16

Cited by: 64

Related to: 10