Lodewijk A. Sandkuijl, MD, is deceased.
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions
Version of Record online: 7 JUL 2003
Copyright © 2003 American Neurological Association
Annals of Neurology
Volume 54, Issue 3, pages 360–366, September 2003
How to Cite
Vanmolkot, K. R. J., Kors, E. E., Hottenga, J.-J., Terwindt, G. M., Haan, J., Hoefnagels, W. A. J., Black, D. F., Sandkuijl, L. A., Frants, R. R., Ferrari, M. D. and Van Den Maagdenberg, A. M. J. M. (2003), Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Ann Neurol., 54: 360–366. doi: 10.1002/ana.10674
- Issue online: 28 AUG 2003
- Version of Record online: 7 JUL 2003
- Manuscript Accepted: 10 MAY 2003
- Manuscript Revised: 9 MAY 2003
- Manuscript Received: 28 JAN 2003
- Netherlands Organization for Scientific Research. Grant Number: 903-52-291
- Migraine Trust
Familial hemiplegic migraine (FHM) is a rare, severe, autosomal dominant subtype of migraine with aura. Up to 75% of FHM families have a mutation in the P/Q-type calcium channel Cav2.1 subunit CACNA1A gene on chromosome 19p13. Some CACNA1A mutations also may cause epilepsy. Here, we describe novel missense mutations in the ATP1A2 Na+,K+-ATPase pump gene on chromosome 1q23 in two families with FHM. The M731T mutation was found in a family with pure FHM. The R689Q mutation was identified in a family in which FHM and benign familial infantile convulsions partially cosegregate. In this family, all available affected family members with FHM, benign familial infantile convulsions, or both, carry the ATP1A2 mutation. Like FHM linked to 19p13, FHM linked to 1q23 also involves dysfunction of ion transportation and epilepsy is part of its phenotypic spectrum.