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… Click to show full 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 missense variants in SLC32A1 can also cause epilepsy with impaired neurodevelopment.
Keywords:
slc32a1 cause;
missense variants;
novo missense;
variants slc32a1
Journal Title: Annals of Neurology
Year Published: 2022
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Journal Title: Annals of Neurology
Year Published: 2022
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!