De Novo Missense Variants in <scp> <i>SLC32A1</i> </scp> Cause a Developmental and Epileptic Encephalopathy Due to Impaired <scp>GABAergic</scp> Neurotransmission

Konrad Platzer, Sonja M. Wojcik, Frédéric Bilan et al.|Annals of Neurology|2022

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