Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085584 (encephalopathy)
 18,178 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The correlations between sleep and prolonged epileptic activity are discussed on the basis of the status classification of Gastaut (1983). Little information is available on the interrelation of sleep and the status of tonic-clonic seizures (grand mal status). Most important is the therapeutical management of these cases. Tonic seizures have been reported to occur in large numbers during NREM sleep in patients with Lennox-Gastaut syndrome. A status-like increase is possible. Tonic seizures occur almost exclusively during sleep. Myoclonic status epilepticus arising (a) in the course of primary generalized epilepsy and (b) in the course of encephalopathies, are usually markedly attenuated during sleep. In absence status (petit mal status) synchronized sleep generally fragments the continuous discharge which is replaced by isolated bursts of polyspikes, or polyspike and wave complexes. The absence status can recur upon awaking during the night or in the morning. The abnormal EEG activity of a petit mal status can, however, occasionally persist during the whole night. Improvement as well as activation during sleep have been observed in elementary (= simple) partial status epilepticus; improvement seems to be more frequent. Epilepsia partialis continua may persist or decrease during sleep. An increase as well as decrease of motor phenomena has been observed during the REM stages. 'Epileptic aphasia' of childhood is associated with subclinical bioelectric status epilepticus during sleep. The electrical status epilepticus must be delineated as a separate group. The term encephalopathy related to electrical status epilepticus during slow sleep (ESES) has been proposed on the basis of associated psychic syndromes. This form of status epilepticus disappears during the waking state and during REM sleep. Cases with hypsarrhythmia without clinical signs may also be classified under the group of electrical or bioelectrical status. In some cases, a continuous hypsarrhythmia is observed only during sleep. In this context, one must also mention those patients who demonstrate continuous activation of spikes, or spike and wave potentials (without clinical seizures) during eye closure.
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PMID:Sleep and prolonged epileptic activity (status epilepticus). 176 86

A case of autoptically verified progressive subcortical gliosis (PSG) is reported. The 79 year old woman developed subacutely a right sided hemisyndrome and a cerebellar syndrome. Generalized action myoclonus of the left leg evolved into left sided Epilepsia partialis continua and dementia appeared. After a 6 month course the patient died of aspiration pneumonia. There was no indication of alcoholism or HIV-dementia neither clinically nor at autopsy. Morphologically the brain showed a diffuse proliferation of astrocytes in the subcortical white matter, thalamus, basal ganglia, brain stem and cerebellum. A severe neuronal dropout was found in medial thalamic neurons but Wernickes encephalopathy was ruled out. 21 cases of PSG confirmed by autopsy were found in the literature. Clinics, neuropathology and classification of PSG is discussed.
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PMID:[Progressive subcortical gliosis]. 193 41

We present here a patient with muscle fatigue and poor growth since the age of 6 y. The diagnosis of a mitochondrial disease was based on the presence of ragged red fibers in the muscle biopsy and on a combined defect of mitochondrial DNA-encoded respiratory enzymes. Epilepsia partialis continua with stroke-like episodes appeared 2 mo before death at the age of 18 and prompted a search for mitochondrial DNA mutations associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. Minisequencing of the patient's DNA samples revealed a heteroplasmic T3271C mutation with a 78-94% mutation load in her fibroblasts or autopsy-derived tissue samples. This is the ninth reported non-Japanese patient with T3271C mutation. Our patient shows that despite very high proportion of mutant mtDNA, the T3271C mutation can give rise to mild symptoms in childhood and to a rapid terminal phase that simulates encephalitis.
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PMID:A juvenile case of MELAS with T3271C mitochondrial DNA mutation. 1600 33

Epilepsia partialis continua (EPC) is a rare form of focal status epilepticus. It may have vascular, immune-mediated, neoplastic or metabolic-toxic causes. The origin of EPC has been linked with the motor cortex. This has been solidly supported by sophisticated electrophysiological studies. Here, a series of video sequences from patients with EPC (due to Rasmussen encephalitis, early-stage multiple sclerosis, and steroid responsive encephalopathy with autoimmune thyroiditis), and other cases with repetitive myoclonic jerks or movement disorders (myoclonic epilepsy associated with ragged-red fibers, Jacksonian march, myoclonic seizures in other types of frontal lobe or idiopathic generalized epilepsies, and different types of tremor) is presented. [Published with video sequences].
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PMID:Epilepsia partialis continua: semiology and differential diagnoses. 1836 24

The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of the proteins important for mitochondrial DNA maintenance. Dominant mutations cause multiple mitochondrial DNA deletions and progressive external ophthalmoplegia, but recent findings associate recessive mutations with mitochondrial DNA depletion and encephalopathy or hepatoencephalopathy. The latter clinical phenotypes resemble those associated with recessive POLG1 mutations. We have previously described patients with infantile onset spinocerebellar ataxia (MIM271245) caused either by homozygous (Y508C) or compound heterozygous (Y508C and A318T) Twinkle mutations. Our earlier reports focused on the spinocerebellar degeneration, but the 20-year follow-up of 23 patients has shown that refractory status epilepticus, migraine-like headaches and severe psychiatric symptoms are also pathognomonic for the disease. All adolescent patients have experienced phases of severe migraine, and seven patients had antipsychotic medication. Epilepsia partialis continua occurred in 15 patients leading to generalized epileptic statuses in 13 of them. Eight of these patients have died. Valproate treatment was initiated on two patients, but had to be discontinued because of a severe elevation of liver enzymes. The patients recovered, and we have not used valproate in infantile onset spinocerebellar ataxia since. The first status epilepticus manifested between 15 and 34 years of age in the homozygotes, and at 2 and 4 years in the compound heterozygotes. The epileptic statuses lasted from several days to weeks. Focal, stroke-like lesions were seen in magnetic resonance imaging, but in infantile onset spinocerebellar ataxia these lesions showed no predilection. They varied from resolving small cortical to large hemispheric oedematous lesions, which reached from cerebral cortex to basal ganglia and thalamus and caused permanent necrotic damage and brain atrophy. Brain atrophy with focal laminar cortical necrosis and hippocampal damage was confirmed on neuropathological examination. The objective of our study was to describe the development and progression of encephalopathy in infantile onset spinocerebellar ataxia syndrome, and compare the pathognomonic features with those in other mitochondrial encephalopathies.
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PMID:Recessive twinkle mutations cause severe epileptic encephalopathy. 1930 94

Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait. The TBC1D24 gene encodes a member of the TBC family domain proteins, involved in cell signaling and oxidative stress resistance. We studied, by a Next Generation Sequencing (NGS) target re-sequencing gene approach, the DNA of a 5 year-old girl, affected by recurrent attacks of Alternating Hemiplegia (AH) and by recurrent episodes of Epilepsia Partialis Continua (EPC). The NGS study showed the presence of two different heterozygous, probably pathogenic variants in the TBC1D24 gene, inherited in trans from her parents: the c.116C>T (p.Ala39Val) and the c.457G>A (p.Glu153Lys). This study describes for the first time the association between TBC1D24 variants and AH expanding the phenotypic spectrum of TBC1D24-related diseases and suggesting that TBC1D24 molecular analysis should be considered in the diagnostic work up of AH patients. An additional peculiar feature is the association of AH and EPC.
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PMID:Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 2829 32