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