@article{6f94ac9f5bf847a5a36fabd9b990cee0,
title = "Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism",
abstract = "ATP1A1 encodes a sodium-potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children presenting with delayed motor and speech development and autism. While absent in controls, the variant occurred de novo in one proband and co-segregated in two affected half-siblings, with mosaicism in the healthy mother. Using a specific ouabain resistance assay in mutant transfected HEK cells, we found significantly reduced cell viability. Demonstrating loss of ATPase function, we conclude that this novel variant is pathogenic, expanding the phenotype spectrum of ATP1A1.",
author = "{Undiagnosed Diseases Network} and Dohrn, {Maike F.} and Guney Bademci and Rebelo, {Adriana P.} and M{\'e}d{\'e}ric Jeanne and Borja, {Nicholas A.} and Danique Beijer and Danzi, {Matt C.} and Bivona, {Stephanie A.} and Paul Gueguen and Zafeer, {Mohammad F.} and Mustafa Tekin and Stephan Z{\"u}chner and Acosta, {Maria T.} and Adams, {David R.} and Ben Afzali and Aimee Allworth and Alvarez, {Raquel L.} and Justin Alvey and Ashley Andrews and Ashley, {Euan A.} and Bacino, {Carlos A.} and Guney Bademci and Ashok Balasubramanyam and Dustin Baldridge and Jim Bale and Michael Bamshad and Deborah Barbouth and Pinar Bayrak-Toydemir and Anita Beck and Beggs, {Alan H.} and Edward Behrens and Gill Bejerano and Bellen, {Hugo J.} and Jimmy Bennett and Bernstein, {Jonathan A.} and Berry, {Gerard T.} and Anna Bican and Stephanie Bivona and Elizabeth Blue and John Bohnsack and Devon Bonner and Nicholas Borja and Lorenzo Botto and Briere, {Lauren C.} and Burke, {Elizabeth A.} and Surendra Dasari and Lanpher, {Brendan C.} and Lanza, {Ian R.} and Eva Morava and Devin Oglesbee",
note = "Publisher Copyright: {\textcopyright} 2023 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.",
year = "2024",
month = apr,
doi = "10.1002/acn3.51963",
language = "English (US)",
volume = "11",
pages = "1075--1079",
journal = "Annals of Clinical and Translational Neurology",
issn = "2328-9503",
publisher = "John Wiley and Sons Inc.",
number = "4",
}