De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission

ISSN
0364-5134
Date Issued
2022
Author(s)
Platzer, Konrad
Sticht, Heinrich
Bupp, Caleb
Ganapathi, Mythily
Pereira, Elaine M.
Le Guyader, Gwenaël
Bilan, Frederic
Henderson, Lindsay B.
Lemke, Johannes R.
Taschenberger, Holger
DOI
10.1002/ana.26485