Sequence of AT1A2_HUMAN

Na+/K+-exchanging ATPase

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Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy.

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A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

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Monteiro F.P.,Curry C.J.,Hevner R.,Elliott S.,Fisher J.H.,Turocy J.,Dobyns W.B.,Costa L.A.,Freitas E.,Kitajima J.P.,Kok F.

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

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Vetro A.,Nielsen H.N.,Holm R.,Hevner R.F.,Parrini E.,Powis Z.,Moeller R.S.,Bellan C.,Simonati A.,Lesca G.,Helbig K.L.,Palmer E.E.,Mei D.,Ballardini E.,Van Haeringen A.,Syrbe S.,Leuzzi V.,Cioni G.,Curry C.J.,Costain G.,Santucci M.,Chong K.,Mancini G.M.S.,Clayton-Smith J.,Bigoni S.,Scheffer I.E.,Dobyns W.B.,Vilsen B.,Guerrini R.

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Brain

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2021