Genetic & Genomic MedicineAnnals of NeurologyPeer-reviewed
De novo missense variants in SLC32A1 cause a neurodevelopmental disorder with epilepsy due to impaired GABAergic neurotransmission
Konrad Platzer, Heinrich Sticht, Caleb P. Bupp…·Sonja M. Wojcik
This study identifies de novo missense variants in SLC32A1 as a cause of a neurodevelopmental disorder with epilepsy, showing they impair GABAergic neurotransmission through two mechanisms.
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