| H01819 | |
| H番号 | H01819 |
| 名称 | 早期ミオクロニー脳症 |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | SLC25A22 [HSA:79751] [KO:K15107] SIK1 [HSA:150094] [KO:K19008] SLC1A2 [HSA:6506] [KO:K05613] CDKL5 [HSA:6792] [KO:K08824] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H00606 Early infantile epileptic encephalopathy. |
| リンク | ICD-11: 8A61.0Y ICD-10: G40.4 MeSH: C562695 OMIM: 609304 616341 617105 300672 |
| 文献 | PMID:19812426 著者 Kamate M, Mahantshetti N, Chetal V タイトル Early myoclonic encephalopathy. 雑誌 Indian Pediatr 46:804-6 (2009) PMID:23044011 著者 Beal JC, Cherian K, Moshe SL タイトル Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. 雑誌 Pediatr Neurol 47:317-23 (2012) DOI:10.1016/j.pediatrneurol.2012.06.002 PMID:15592994 (SLC25A22) 著者 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 タイトル Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. 雑誌 Am J Hum Genet 76:334-9 (2005) DOI:10.1086/427564 PMID:25839329 (SIK1) 著者 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 タイトル De novo mutations in SIK1 cause a spectrum of developmental epilepsies. 雑誌 Am J Hum Genet 96:682-90 (2015) DOI:10.1016/j.ajhg.2015.02.013 PMID:27476654 (SLC1A2) 著者 Myers CT, McMahon JM, Schneider AL, Petrovski S タイトル De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 雑誌 Am J Hum Genet 99:287-98 (2016) DOI:10.1016/j.ajhg.2016.06.003 PMID:31492455 (CDKL5) 著者 Takeda K, Miyamoto Y, Yamamoto H, Ishii A, Hirose S, Yamamoto H タイトル Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation. 雑誌 Brain Dev 42:73-76 (2020) DOI:10.1016/j.braindev.2019.08.003 |