Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

The syndrome of malignant migrating partial seizures in infancy was first reported in 1995, and is now included among the childhood epilepsy syndromes in development in the proposal of the revision of the International League Against Epilepsy (ILAE) classification of the epilepsies and epilepsy syndromes. The main clinical features are seizure onset in the first 6 months of life, occurrence of almost continuous migrating polymorphous focal seizures, combined with multifocal ictal electroencephalography (EEG) discharges, and progressive deterioration of psychomotor development. Etiology is so far unknown. Seizures are markedly drug resistant and outcome is generally severe. Based on age at onset, migrating partial seizures in infancy (MMPEI) may be placed between early epileptic encephalopathies (early myoclonic encephalopathy [EME] and early infantile epileptic encephalopathy [EIEE]) and infantile spasms.
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PMID:Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. 1946 47

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 is an epileptic syndrome with different etiologies. Nonketotic hyperglycinemia is one cause. We describe two cases of early myoclonic encephalopathy, secondary to nonketotic hyperglycinemia, with fatal evolution in the neonatal period. These two cases may better clarify clinical findings that can be associated with impairment of glycine metabolism. Distinguishing features include agenesis of the corpus callosum in patient 1, and weight loss exceeding 10%, associated with metabolic acidosis, in patient 2. The burst-suppression electroencephalography pattern is relatively common in neonatal encephalopathies, and is frequently associated with seizures. Nonketotic hyperglycinemia is an inborn error of metabolism caused by mutations in genes encoding protein in the mitochondrial glycine cleavage system. The neonatal form is a severe, frequently lethal neurologic disease. When associated with electro-clinical features, progressive lethargy and hypotonia occur in the first days of life, progressing to apnea and often death. Prospective treatment with oral sodium benzoate, the N-methyl-d-aspartate receptor antagonist ketamine, and dextromethorphan can favorably modify the early neonatal course of severe nonketotic hyperglycinemia, but does not prevent poor long-term outcomes.
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PMID:Early myoclonic encephalopathy and nonketotic hyperglycinemia. 1981 41

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

Ohtahara syndrome or Early Infantile Epileptic Encephalopathy (EIEE) with Suppression-Burst, is the most severe and the earliest developing age-related epileptic encephalopathy. Clinically, the syndrome is characterized by early onset tonic spasms associated with a severe and continuous pattern of burst activity. It is a debilitating and early progressive neurological disorder, resulting in intractable seizures and severe mental retardation. Specific mutations in at least four genes (whose protein products are essential in lower brain's neuronal and interneuronal functions, including mitochondrial respiratory chains have been identified in unrelated individuals with EIEE and include: (a) the ARX (aristaless-related) homeobox gene at Xp22.13 (EIEE-1 variant); (b) the CDKL5 (SYK9) gene at Xp22 (EIEE-2 variant); (c) the SLC25A22 (GC1) gene at 11p15.5 (EIEE-3 variant); and (d) the Stxbp1 (MUNC18-1) gene at 9q34-1 (EIEE-4 variant). A yet unresolved issue involves the relationship between early myoclonic encephalopathy (EME-ErbB4 mutations) versus the EIEE spectrum of disorders.
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PMID:Ohtahara syndrome with emphasis on recent genetic discovery. 2196 65

Malignant migrating partial seizures in infancy (MMPSI) or Coppola-Dulac syndrome is a rare epilepsy syndrome with the onset in the first 6 months of life, characterized by multiple continuous electroencephalographic and electroclinical focal ictal patterns due to the involvement of different independent areas of both hemispheres with the arrest of psychomotor development. This article is based on the personal observations of 19 cases. Four subtypes of the syndrome were determined in our population of infants with MMPSI (n=19): 1) a "classic" form with pharmacoresistant migrated status epilepticus (SE) of migrating multifocal seizures, and with absolutely poor prognosis (n=7); 2) a severe pharmacoresistant mixed form (MMPSI + EME) with the combination of electroclinical characteristics of MMPSI with migrating multifocal SE and early myoclonic encephalopathy (n=5); 3) a "mild" variant (n=5); 4) a "subtle" form (n=2). In basic therapy, drugs of choice are antiepileptic drugs (AEDs) with a wide range of action (valproates, in the combination with barbiturates, benzodiazepines and levetiracetam) and also very old drugs as bromides. The preferred drugs are the valproate forms available for patients with disturbances of swallowing (depakine chronosphere or depakine syrup).
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PMID:[The syndrome of malignant migrating partial seizures in infancy or Coppola-Dulac syndrome (19 cases)]. 2361 6

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