Felicia Mermer

Common molecular mechanisms of<i>SLC6A1</i>variant-mediated neurodevelopmental disorders in astrocytes and neurons

Felicia Mermer, Sarah Poliquin, Kathryn Rigsby et al. · Brain · 2021 · 70 citations · Full text

Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism

Jie Wang, Sarah Poliquin, Felicia Mermer et al. · Molecular Brain · 2020 · 44 citations · Full text

Astrocytic GABA transporter 1 deficit in novel SLC6A1 variants mediated epilepsy: Connected from protein destabilization to seizures in mice and humans

Felicia Mermer, Sarah Poliquin, Shuizhen Zhou et al. · Neurobiology of Disease · 2022 · 29 citations · Full text

4-Phenylbutyrate restored γ-aminobutyric acid uptake and reduced seizures in <i>SLC6A1</i> patient variant-bearing cell and mouse models

Gerald Nwosu, Felicia Mermer, Carson Flamm et al. · Brain Communications · 2022 · 28 citations · Full text

Synaptic Transmission, Neurochemical Biomarkers, Synaptic Signaling +25

Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD

Sarah Poliquin, Inna Hughes, Wangzhen Shen et al. · Experimental Neurology · 2021 · 27 citations · Full text

Mendelian Disorder, Psychiatry, Genetic Disorder +8