Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

doi:10.1093/brain/awad124

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Article

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

Brain : a journal of neurology - 1 Aug 2023

Calame Daniel G, Moreno Vadillo Cristina, Berger Seth, Lotze Timothy, Shinawi Marwan, Poupak Javaher, Heller Corina, Cohen Julie, Person Richard, Telegrafi Aida, Phitsanuwong Chalongchai, Fiala Kaylene, Thiffault Isabelle, Del Viso Florencia, Zhou Dihong, Fleming Emily A, Pastinen Tomi, Fatemi Ali, Thomas Sruthi, Pascual Samuel I, Torres Rosa J, Prior Carmen, Gómez-González Clara, Biskup Saskia, Lupski James R, Maric Dragan, Holmgren Miguel, Regier Debra, Yano Sho T

Abstract excerpt

ATP1A3 encodes the α3 subunit of the sodium-potassium ATPase, one of two isoforms responsible for powering electrochemical gradients in neurons. Heterozygous pathogenic ATP1A3 variants produce several distinct neurological syndromes, yet the molecular basis for phenotypic variability is unclear. We report a novel recurrent variant, ATP1A3(NM_152296.5):c.2324C>T; p.(Pro775Leu), in nine individuals associated with...

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PMID: 37043503
DOI: 10.1093/brain/awad124
PMCID: PMC10393399

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