Associated Papers
Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders.
Fischer FP et al.
Frontiers in Molecular Biosciences, 2022
Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism.
Wang J et al.
Molecular Brain, 2020
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F et al.
Genome Medicine, 2019
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