Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

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 m...

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Bibliographic Details
Published in:Annals of neurology 2003-09, Vol.54 (3), p.360-366
Main Authors: Vanmolkot, Kaate R. J., Kors, Esther E., Hottenga, Jouke-Jan, Terwindt, Gisela M., Haan, Joost, Hoefnagels, Wil A. J., Black, David F., Sandkuijl, Lodewijk A., Frants, Rune R., Ferrari, Michel D., Van Den Maagdenberg, Arn M. J. M.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Amino Acid Sequence
Animals
Biological and medical sciences
Child
Child, Preschool
DNA Mutational Analysis
Epilepsy, Benign Neonatal - complications
Epilepsy, Benign Neonatal - genetics
Female
Genetic Linkage
Haplotypes
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Male
Medical sciences
Mice
Middle Aged
Migraine with Aura - complications
Migraine with Aura - genetics
Mutation, Missense
Nervous system (semeiology, syndromes)
Neurology
Pedigree
Polymerase Chain Reaction
Rats
Sodium-Potassium-Exchanging ATPase - genetics
Species Specificity
Vascular diseases and vascular malformations of the nervous system
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Summary: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.
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.10674