Article
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome.
Neurology - 15 Mar 2022
Dohrn Maike F, Rebelo Adriana P, Srivastava Siddharth, Cappuccio Gerarda, Smigiel Robert, Malhotra Alka, Basel Donald, van de Laar Ingrid, Neuteboom Rinze Frederik, Aarts-Tesselaar Coranne, Mahida Sonal, Brunetti-Pierri Nicola, Taft Ryan J, Züchner Stephan
Abstract excerpt
ATP1A1 encodes the α1 subunit of the sodium-potassium ATPase, an electrogenic cation pump highly expressed in the nervous system. Pathogenic variants in other subunits of the same ATPase, encoded by ATP1A2 or ATP1A3, are associated with syndromes such as hemiplegic migraine, dystonia, or cerebellar ataxia. Worldwide, only 16 families have been reported carrying pathogenic ATP1A1 variants to date. Associated...
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