Articles with "variants slc32a1" as a keyword



Photo by claybanks from unsplash

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

Sign Up to like & get
recommendations!
Published in 2022 at "Annals of Neurology"

DOI: 10.1002/ana.26485

Abstract: Rare inherited missense variants in SLC32A1, the gene that encodes the vesicular gamma‐aminobutyric acid (GABA) transporter, have recently been shown to cause genetic epilepsy with febrile seizures plus. We aimed to clarify if de novo… read more here.

Keywords: slc32a1 cause; missense variants; novo missense; variants slc32a1 ... See more keywords