| 1 | EIEE93, OTUD7A |
| Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures | |
| Suzuki H, Inaba M, Yamada M, Uehara T, Takenouchi T, Mizuno S, Kosaki K, Doi M. | |
| Am J Med Genet A Apr;185(4):1182-1186. doi: 10.1002/ajmg.a.62054. Epub 2020 Dec 31 2021 | |
| 2 | EIEE93, OTUD7A |
| Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. 2020 PMID: | |
| Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A, Auvin S, Duffourd Y, Klafack S, Zieba BA, Mahmoudi S, Singh KK, Duplomb L, Thauvin-Robinet C, Costa JM, Krüger E, Trost D, Verloes A, Faivre L, Vitobello A. | |
| Clin Genet. Apr;97(4):567-575. doi: 10.1111/cge.13709. Epub 2020 Feb 11. 2020 | |