Early myoclonic encephalopathy

Definition

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.

References:

[1]. Epi4K Consortium, et al. De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. Am J Hum Genet. 2016 Aug 4;99(2):287-98. [Content Brief]

[2]. Florence Molinari, et al. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet. 2005 Feb;76(2):334-9. [Content Brief]

[3]. Jeanne Hansen, et al. De novo mutations in SIK1 cause a spectrum of developmental epilepsies. Am J Hum Genet. 2015 Apr 2;96(4):682-90. [Content Brief]

[4]. Jules C Beal, et al. Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. Pediatr Neurol. 2012 Nov;47(5):317-23. [Content Brief]

[5]. Kanako Takeda, et al. Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation. Brain Dev. 2020 Jan;42(1):73-76. [Content Brief]

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