Myoclonic-atonic epilepsy

Definition:

Myoclonic-atonic epilepsy (MAE) is an autosomal dominant disorder caused by mutations in SLC6A1. GAT-1, encoded by SLC6A1, is one of the major gamma-aminobutyric acid (GABA) transporters in the brain and is responsible for reuptake of GABA from the synapse.

References:

[1]. David W Cope, et al. Enhanced tonic GABAA inhibition in typical absence epilepsy. Nat Med. 2009 Dec;15(12):1392-8. [Content Brief]

[2]. Gemma L Carvill, et al. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. Am J Hum Genet. 2015 May 7;96(5):808-15. [Content Brief]

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