Liesbet Deprez, Katelijne, and Sarah Weckhuysen contributed equally to this work, and Wim Van Paesscheu and Peter De Jonghe contributed equally to this work.
Epilepsy as part of the phenotype associated with ATP1A2 mutations
Article first published online: 20 NOV 2007
2008 International League Against Epilepsy
Volume 49, Issue 3, pages 500–508, March 2008
How to Cite
Deprez, L., Weckhuysen, S., Peeters, K., Deconinck, T., Claeys, K. G., Claes, L. R.F., Suls, A., Van Dyck, T., Palmini, A., Matthijs, G., Van Paesschen, W. and De Jonghe, P. (2008), Epilepsy as part of the phenotype associated with ATP1A2 mutations. Epilepsia, 49: 500–508. doi: 10.1111/j.1528-1167.2007.01415.x
- Issue published online: 20 NOV 2007
- Article first published online: 20 NOV 2007
- Accepted April 10, 2007; Online Early publication November 20, 2007.
- Epileptic seizures;
- Familial hemiplegic migraine;
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.