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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The author first reviews the definition of myoclonia as an epileptic crisis differentiated from tonic crises and infantile spasms. He reviews the prevalence and incidence found in bibliographic data, under the following headings 1. Early myoclonic encephalopathy or neonatal myoclonic encephalopathy 2. Early epileptic syndrome with bursts of suppression or Otahara's syndrome. 3. West's syndrome. 4. The benign myoclonic epilepsy syndrome of children. 6. Syndrome of myoclonic epilepsy in non-progressive encephalopathy. 7. Early myoclonic epilepsy of children or Dose's syndrome. 8. Lennox-Gastaut syndrome. 9. Syndrome of epilepsy with absences in children. 10. Myoclonic absence epilepsy syndrome. 11. Landau-Kleffner syndrome and the syndrome of continuous slow spike-and-wave epilepsy during slow sleep. 12. Photosensitive epilepsy. 13. Absence epilepsy in young patients. 14. Juvenile myoclonic epilepsy. 15. Syndrome of gran mal epilepsy on waking. 16. Progressive myoclonic epilepsies. The author reviews 6,450 cases, 408 patients who had myoclonic crises, that is 6.3%. The differences seen in this total group of patients were: the myoclonic crises which presented alone, myoclonic crises accompanied by simple typical absences, those initially accompanied by generalized tonic-clonic crises and those presenting typical absences, tonic-clonic generalized crises and myoclonus simultaneously. The course of the different groups is analyzed.
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PMID:[Severity and epidemiology of myoclonic epilepsy]. 1071 95

Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, time of onset before 3 months of age, and suppression-burst (SB) pattern in EEG are accepted as the diagnostic criteria for EME. We report a 40-day-old infant with the diagnosis of non-ketotic hyperglycinemia (NKHG). The infant developed myoclonic and focal tonic seizures on the first day of life. His first sleep EEG recorded after onset of seizure was normal. Because of the diagnosis of NKHG and early developed myoclonic seizure, we thought the infant might be EME, and repeated sleep EEG on admission in which asymmetrical SB pattern was seen. We concluded that the absence of SB pattern in the first EEG recording does not exclude the diagnosis of EME, but repetition of EEG is necessary to demonstrate the presence of SB pattern to meet the diagnostic criteria for EME.
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PMID:Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy. 1601 70

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. We report an 11 month old infant with EME which was secondary to non-ketotic hyperglycinemia.
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PMID:Early myoclonic encephalopathy. 1981 26

Early myoclonic encephalopathy presents neonatally with fragmented myoclonus and a suppression-burst electroencephalography pattern. We describe a newborn boy with early myoclonic encephalopathy caused by nonketotic hyperglycinemia. He presented with severe hypotonia, progressive apneic episodes, and erratic myoclonus. Screening of deletions in GLDC, using the multiplex ligation-dependent probe amplification method, and a (13)C breath test confirmed the diagnosis of nonketotic hyperglycinemia. Treatment with the N-methyl-d-aspartate receptor antagonist ketamine exerted dramatic suppressive effects on his seizures, and ameliorated his clinical status.
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PMID:Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy. 2069 48

Early myoclonic encephalopathy (EME) presents in neonatal period with erratic or fragmentary myoclonus and a burst-suppression electroencephalography (EEG) pattern. Nonketotic hyperglycinemia (NKH) is the most common metabolic cause of EME and genetic testing confirms the diagnosis of NKH in around 75% of the patients with a clinical diagnosis of NKH. Three genes are known to cause NKH. Here we describe a case of EME caused by NKH in which a new mutation in aminomethyltransferase (AMT) gene has been detected.
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PMID:A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy. 2637 80

Idiopathic generalized epilepsies (IGE) are characterized by normal background EEG activity and generalized interictal spike-and-wave discharges in the absence of any evidence of brain lesion. Absence epilepsies are the prototypes of IGEs. In childhood and juvenile absence epilepsies, by definition, all patients manifest absence seizures associated with an EEG pattern of generalized spike-wave (GSW) discharges. In juvenile myoclonic epilepsy, myoclonic jerks, usually affecting shoulders and arms bilaterally and appearing upon awakening, are the most characteristic clinical feature. Myoclonic jerks are accompanied on the EEG by generalized spike/polyspike-and-wave (GSW, GPWS) complexes at 3.5-6Hz. Idiopathic generalized epilepsy with generalized tonic-clonic seizures only is a broad and nonspecific category including all patients with generalized tonic-clonic seizures and an interictal EEG pattern of GSW discharges. Despite the strong heritability and the recent advances in genetic technology, the genetic basis of IGEs remains largely elusive and only in a small minority of patients with classic IGE phenotypes is a monogenic cause identified. Early myoclonic encephalopathy (EME), early infantile encephalopathy with suppression bursts, West syndrome, and Lennox-Gastaut syndrome, once classified among the generalized epilepsies, are now considered to be epileptic encephalopathies. Among them, only Lennox-Gastaut syndrome is characterized by prominent generalized clinical and EEG features.
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PMID:Generalized epilepsies. 3130 8