Could RDP phenotype be broader similar to ATP1A2 mutations?
While RDP is the first human disease to be associated with mutations of ATP1A3, three neurological diseases have been associated with mutations in the ATP1A2 subunit: infantile seizures, familial hemiplegic migraine (FHM) and more recently familial common migraine (Terwindt et al., 1998; Vanmolkot, 2003a; Vanmolkot, 2003b; De Fusco et al., 2004; Estevez and Gardner, 2004). The dominant characteristics of patients presenting with diseases caused by mutations in ATP1A3 and ATP1A2 are consistent with what is known about the major cell-type distribution of 3 and 2 in the brain (de Carvalho Aguiar et al., 2004). The Na,K-ATPase converts metabolic energy by moving Na out of the cell and K into the cell, restoring the ion gradients of the cell reduced by the activity of ion channels and Na+-dependent carriers (McGrail et al., 1991). The Na,K-ATPase has three subunits, , ß, with the representing the catalytic component of the enzyme. The 3 isoform is expressed exclusively in neurons in the CNS
