has material basis in germline mutation in SLC6A1 syndromic disease epilepsy with myoclonic atonic seizures https://github.com/monarch-initiative/mondo/issues/4985 https://github.com/monarch-initiative/mondo/issues/8287 https://github.com/monarch-initiative/mondo/issues/8452 https://rarediseases.info.nih.gov/diseases/2169/myoclonic-astatic-epilepsy https://www.malacards.org/card/myoclonic_atonic_epilepsy MONDO:0014633 Doose syndrome myoclonic-astatic epilepsy in early childhood myoclonic-atonic epilepsy MAE EMAS OMIM:616421 https://www.epilepsydiagnosis.org/syndrome/epilepsy-myoclonic-atonic-overview.html ICD9:345.10 epilepsy with myoclonic-atonic seizures epilepsy with myoclonic-astatic seizures EMAtS Orphanet:1942 SCTID:230421008 epilepsy with myoclonic atonic seizures MEDGEN:98284 UMLS:C0393702 icd11.foundation:951920505 myoclonic astatic epilepsy epilepsy with myoclono-astatic crisis GARD:0016108 Myoclonic Atonic Epilepsy myoclonic atonic epilepsy An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. DOID:0060475 inborn disorder of amino acid transport hereditary neurological disease childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy