| H01819 | |
| H number | H01819 |
| Name | Early myoclonic encephalopathy |
| Description | Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, onset before 3 months of age, and persistent suppression-burst pattern in electroencephalograph (EEG) are accepted as the diagnostic criteria for EME. The pathogenesis of EME is variable, with structural, metabolic, and genetic abnormalities all playing a role. Associated metabolic abnormalities are frequently described. In particular, nonketotic hyperglycinemia has been associated with a large number of cases. |
| Category | Nervous system disease |
| Network | - |
| Gene | SLC25A22 [HSA:79751] [KO:K15107] SIK1 [HSA:150094] [KO:K19008] SLC1A2 [HSA:6506] [KO:K05613] CDKL5 [HSA:6792] [KO:K08824] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Ganaxolone [DR:D04300] |
| Comment | See also H00606 Early infantile epileptic encephalopathy. |
| Other DBs | ICD-11: 8A61.0Y ICD-10: G40.4 MeSH: C562695 OMIM: 609304 616341 617105 300672 |
| Reference | PMID:19812426 AUTHORS Kamate M, Mahantshetti N, Chetal V TITLE Early myoclonic encephalopathy. JOURNAL Indian Pediatr 46:804-6 (2009) PMID:23044011 AUTHORS Beal JC, Cherian K, Moshe SL TITLE Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. JOURNAL Pediatr Neurol 47:317-23 (2012) DOI:10.1016/j.pediatrneurol.2012.06.002 PMID:15592994 (SLC25A22) AUTHORS Molinari F, Raas-Rothschild A, Rio M, Fiermonte G, Encha-Razavi F, Palmieri L, Palmieri F, Ben-Neriah Z, Kadhom N, Vekemans M, Attie-Bitach T, Munnich A, Rustin P, Colleaux L TITLE Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. JOURNAL Am J Hum Genet 76:334-9 (2005) DOI:10.1086/427564 PMID:25839329 (SIK1) AUTHORS Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR TITLE De novo mutations in SIK1 cause a spectrum of developmental epilepsies. JOURNAL Am J Hum Genet 96:682-90 (2015) DOI:10.1016/j.ajhg.2015.02.013 PMID:27476654 (SLC1A2) AUTHORS Myers CT, McMahon JM, Schneider AL, Petrovski S TITLE De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. JOURNAL Am J Hum Genet 99:287-98 (2016) DOI:10.1016/j.ajhg.2016.06.003 PMID:31492455 (CDKL5) AUTHORS Takeda K, Miyamoto Y, Yamamoto H, Ishii A, Hirose S, Yamamoto H TITLE Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation. JOURNAL Brain Dev 42:73-76 (2020) DOI:10.1016/j.braindev.2019.08.003 |