Title: Epilepsy as part of the phenotype associated with ATP1A2 mutations
Authors: Deprez, Liesbet ×
Weckhuysen, Sarah
Peeters, Katelijne
Deconinck, Tine
Claeys, Kristl
Claes, Lieve R F
Suls, Arvid
Van Dyck, Tine
Palmini, André
Matthijs, Gert
Van Paesschen, Wim
De Jonghe, Peter #
Issue Date: Mar-2008
Series Title: Epilepsia vol:49 issue:3 pages:500-508
Abstract: PURPOSE: Mutations in the ATP1A2 gene have been described in families with familial hemiplegic migraine (FHM). FHM is a variant of migraine with aura characterized by the occurrence of hemiplegia during the aura. Within several FHM families, some patients also had epileptic seizures. In this study we tested the hypothesis that mutations in ATP1A2 may be common in patients presenting with epilepsy and migraine. METHODS: We selected 20 families with epilepsy and migraine and performed mutation analysis of ATP1A2 in the probands by direct sequencing of all exons and splice-site junctions. RESULTS: Novel ATP1A2 mutations were found in two of the 20 families (10%). The p.Gly900Arg mutation was present in a family with epilepsy and FHM, and the p.Cys702Tyr mutation occurred in a family with occipitotemporal epilepsy and migraine with and without visual aura. In the two families together, six mutation carriers had the combination of epilepsy and migraine, two had only epilepsy, and six had only migraine. DISCUSSION: This study shows that a history of migraine and a family history of both epilepsy and migraine should be obtained in all patients presenting with epilepsy in the epilepsy clinic. It may be worthwhile to screen patients with a combination of epilepsy and migraine and a positive family history of either migraine or epilepsy for mutations in the ATP1A2 gene.
ISSN: 0013-9580
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Muscle Diseases and Neuropathies
Clinical Genetics Section (-)
Research Group Experimental Neurology
Laboratory for Epilepsy Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

Files in This Item:
File Description Status SizeFormat
Deprez et al Epilepsia 2008.pdf Published 244KbAdobe PDFView/Open Request a copy

These files are only available to some KU Leuven Association staff members


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science