About the Project
SLC6A1 encodes GAT-1, a voltage-dependent gamma-aminobutyric acid (GABA) transporter that is responsible for the reuptake of GABA from the synapse which are mainly found in the astrocytes. GABA is the primary neurotransmitter responsible for inhibiting neuronal activity in the brain, acting to balance out excitatory signals. Imbalance in this inhibitory mechanism can lead to the occurrence of seizures. SLC6A1-related neurodevelopmental disorder is a rare disorder, affects 1:50000 individuals. It…
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