Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation
Version of Record online: 25 JAN 2006
Copyright © 2006 American Neurological Association
Annals of Neurology
Volume 59, Issue 2, pages 310–314, February 2006
How to Cite
Vanmolkot, K. R. J., Stroink, H., Koenderink, J. B., Kors, E. E., van den Heuvel, J. J. M. W., van den Boogerd, E. H., Stam, A. H., Haan, J., De Vries, B. B. A., Terwindt, G. M., Frants, R. R., Ferrari, M. D. and van den Maagdenberg, A. M. J. M. (2006), Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. Ann Neurol., 59: 310–314. doi: 10.1002/ana.20760
- Issue online: 25 JAN 2006
- Version of Record online: 25 JAN 2006
- Manuscript Accepted: 25 OCT 2005
- Manuscript Revised: 18 OCT 2005
- Manuscript Received: 14 JUL 2005
- Netherlands Organization for Scientific Research. Grant Numbers: 903-52-291, Vici 918.56.602
- The Migraine Trust
- EU “Eurohead”. Grant Number: LSHM-CT-2004-504837
- Center of Medical System Biology established by the Netherlands Genomics Initiative/Netherlands Organisation for Scientific Research
Attacks of familial hemiplegic migraine (FHM) are usually associated with transient, completely reversible symptoms. Here, we studied the ATP1A2 FHM2 gene in a young girl with episodes of both very severe and transient neurological symptoms that were triggered by mild head trauma as well as permanent mental retardation. Her family members suffered from hemiplegic and confusional migraine attacks.
Mutation analysis of the ATP1A2 gene was performed by direct sequencing of all exons and flanking intronic regions, using genomic DNA of the proband. Functional consequences of the mutation were analyzed by cellular survival assays.
We identified a novel G615R ATP1A2 mutation in the proband and several of her family members. Functional analysis of mutant Na,K-ATPase in cellular survival assays showed a complete loss-of-function effect.
Permanent mental retardation in children may be caused by ATP1A2 mutations. Ann Neurol 2006;59:310–314