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Electrobehavioral phenotype and seizure pharmacosensitivity in a novel mouse model of patient-derived SLC6A1 S295L mutation-associated neurodevelopmental epilepsy

2021-12-20

Abstract excerpt

Solute carrier family 6 member 1 ( SLC6A1 ) gene encodes GAT-1, a GABA transporter expressed on glia and presynaptic terminals of inhibitory neurons. Mutations in SLC6A1 are associated with myoclonic atonic epilepsy, absence epilepsy, autism, and intellectual disability. However, the mechanisms leading to these defects are unknown. Here, we used a novel mouse model harboring a point mutation (S295L) recently ide...

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Literature Corpus work: db2aa916-fe04-529c-9fd9-66a52d780e48
DOI: 10.1101/2021.12.17.473036

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Electrobehavioral phenotype and seizure pharmacosensitivity in a novel mouse model of patient-derived SLC6A1 S295L mutation-associated neurodevelopmental epilepsyDOI 10.1101/2021.12.17.473036Read

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Electrobehavioral phenotype and seizure pharmacosensitivity in a novel mouse model of patient-derived <i>SLC6A1</i> S295L mutation-associated neurodevelopmental epilepsy

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