Mounting evidence indicates that microglia, which are the resident immune cells of the brain,
play critical roles in a diverse array of neurodevelopmental processes required for proper …

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Since it was first generally accepted that the two amino acids glutamate and GABA act as
principal neurotransmitters, several landmark discoveries relating to this function have been …

Many patients with developmental and epileptic encephalopathies present with variants in
genes coding for GABAA receptors. These variants are presumed to cause loss-of-function …

Synaptic regulation of the primary inhibitory neurotransmitter γ-aminobutyric acid (GABA) is
essential for brain function. Cerebral GABA homeostasis is tightly regulated through multiple …

Epilepsy is a common neurological disorder associated with alterations of excitation‐
inhibition balance within brain neuronal networks. GABAA receptor neurotransmission is the …

Objective Mutations in γ-aminobutyric acid (GABA) transporter 1 (GAT-1)-encoding SLC6A1
have been associated with myoclonic atonic epilepsy and other phenotypes. We determined …

Inborn errors of neurotransmitter (NT) metabolism are a group of rare, heterogenous
diseases with predominant neurological features, such as movement disorders, autonomic …

The human γ-aminobutyric acid (GABA) transporter 1 (hGAT-1) is the first member of the
solute carrier 6 (SLC6) protein superfamily. GAT-1 (SLC6A1) is one of the main GABA …

Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by
altering the protein function. Thus, systematically curated clinically relevant genotype …