ミオクロニー脱力発作を伴うてんかん [DS:H01823]
症候性全般てんかん [DS:H00577]

Carvill GL, McMahon JM, Schneider A, Zemel M, Myers CT, Saykally J, Nguyen J, Robbiano A, Zara F, Specchio N, Mecarelli O, Smith RL, Leventer RJ, Moller RS, Nikanorova M, Dimova P, Jordanova A, Petrou S, Helbig I, Striano P, Weckhuysen S, Berkovic SF, Scheffer IE, Mefford HC

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.

Am J Hum Genet 96:808-15 (2015)
DOI:10.1016/j.ajhg.2015.02.016

Cope DW, Di Giovanni G, Fyson SJ, Orban G, Errington AC, Lorincz ML, Gould TM, Carter DA, Crunelli V

Enhanced tonic GABAA inhibition in typical absence epilepsy.

Nat Med 15:1392-8 (2009)
DOI:10.1038/nm.2058