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 developmen...

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Egile Nagusiak:	Maike F. Dohrn, Guney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, Matt C. Danzi, Stephanie A. Bivona, Paul Gueguen, Mohammad F. Zafeer, Undiagnosed Diseases Network, Mustafa Tekin, Stephan Züchner
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Wiley 2024-04-01
Saila:	Annals of Clinical and Translational Neurology
Sarrera elektronikoa:	https://doi.org/10.1002/acn3.51963
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