The clinical spectrum associated with ATP1A2 mutations is expanding and includes familial hemiplegic migraine, alternating hemiplegia of childhood, and epilepsy. We have identified a novel c.1766T>C. (Ile589Thr) heterozygous mutation in the ATP1A2 gene in a Saudi kindred with hemiplegic attacks and seizures. Our findings broaden the phenotypic spectrum of patients with ATP1A2 mutations.
GritzSMRadcliffeRA. Genetic effects of ATP1A2 in familial hemiplegic migraine type II and animal models. Hum Genomics. 2013;7:8.
2.
SwobodaKJKanavakisE, Xaidara A, et al. alternating hemiplegia of childhood or familial hemiplegic migraine?A novel ATP1A2 mutation. Ann Neurol. 2004;55:884–887.
3.
BassiMTBresolinNTonelliA. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood. J Med Genet. 2004;41:621–628.
4.
PanagiotakakiEGobbiGNevilleB. Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. Brain. 2010;133(pt 12):3598–3610.
5.
HeinzenELSwobodaKJHitomiY. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012;44:1030–1034.
6.
HarriottAMDuekerNChengYC. Polymorphisms in migraine-associated gene, ATP1A2, and ischemic stroke risk in a biracial population: the genetics of early onset stroke study. Springerplus. 2013;2:46.
7.
VanmolkotKRStroinkHKoenderinkJB. Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. Ann Neurol. 2006;59:310–314.
8.
JenJCKleinABoltshauserE. Prolonged hemiplegic episodes in children due to mutations in ATP1A2. J Neurol Neurosurg Psychiatry. 2007;78:523–526.
9.
IkedaKOnakaTYamakadoM. Degeneration of the amygdala/piriform cortex and enhanced fear/anxiety behaviors in sodium pump alpha2 subunit (Atp1a2)-deficient mice. J Neurosci. 2003;23:4667–4676.
10.
StysPK. White matter injury mechanisms. Curr Mol Med. 2004;4:113–130.
11.
WangYQinZH. Molecular and cellular mechanisms of excitotoxic neuronal death. Apoptosis. 2010;15:1382–1402.
12.
XiongHChuHZhouX. Simultaneously reduced NKCC1 and Na,K-ATPase expression in murine cochlear lateral wall contribute to conservation of endocochlear potential following a sensorineural hearing loss. Neurosci Lett. 2011;488:204–209.
