Referenced in: none

Automatically associated channels: Cav2.1

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

Authors: Kaate R J Vanmolkot, Esther E Kors, Jouke-Jan Hottenga, Gisela M Terwindt, Joost Haan, Wil A J Hoefnagels, David F Black, Lodewijk A Sandkuijl, Rune R Frants, Michel D Ferrari, Arn M J M Van Den Maagdenberg

Journal, date & volume: Ann. Neurol., 2003 Sep , 54, 360-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/12953268

Abstract
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 Ca(v)2.1 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.