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De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission

2021-12-09

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We describe four patients with a neurodevelopmental disorder and de novo missense variants in SLC32A1, the gene that encodes the vesicular GABA transporter (VGAT). The main phenotype comprises moderate to severe intellectual disability, early onset epilepsy within the first 18 months of life and a choreatic, dystonic or dyskinetic movement disorder. In silico modeling and functional analyses in cultured neurons re...

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Literature Corpus work: 1684fc1b-afdb-5a89-b526-dfddf7bf3509
DOI: 10.1101/2021.12.06.21267233

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De novo missense variants in <i>SLC32A1</i> cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission

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