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P. P. McDonnell

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Review Open access Oct 2026

Beyond Seizure Management in a Developmental Epileptic Encephalopathy

Background and Objectives SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) is emerging as a leading genetic cause of epilepsy, autism spectrum disorder (ASD), and NDD caused by monoallelic loss of function variants in SLC6A1 (solute carrier family 6 member 1) which encodes a gamma-aminobutyric acid (GABA) transp...

Marie E. Varnet, Hamza Dahshi, Kimberly Goodspeed et al. · 0 citations

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