| 1 | DEE114, SLC32A1 |
| De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission | |
| Platzer K, Sticht H, Bupp C, Ganapathi M, Pereira EM, Le Guyader G, Bilan F, Henderson LB, Lemke JR, Taschenberger H, Brose N, Abou Jamra R, Wojcik SM. | |
| Ann Neurol. Dec;92(6):958-973. doi: 10.1002/ana.26485. Epub 2022 Sep 8. 2022 | |
| 2 | DEE114, SLC32A1 |
| Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus | |
| Heron SE, Regan BM, Harris RV, Gardner AE, Coleman MJ, Bennett MF, Grinton BE, Helbig KL, Sperling MR, Haut S, Geller EB, Widdess-Walsh P, Pelekanos JT, Bahlo M, Petrovski S, Heinzen EL, Hildebrand MS, Corbett MA, Scheffer IE, Gécz J, Berkovic SF. | |
| Neurology May 4;96(18):e2251-e2260. doi: 10.1212/WNL.0000000000011855. Epub 2021 Mar 23. 2021 | |