Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0238111 (Lennox-Gastaut syndrome)
 861 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We measured local cerebral glucose utilization in 19 patients with Lennox-Gastaut syndrome (LG), partial seizures (PS), atypical and classical phenylketonuria (PKU), Leigh disease, and subacute sclerosing panencephalitis (SSPE), using positron emission tomography (PET). The mean values of regional glucose utilization in interictal scans of LG were significantly reduced in all brain regions when compared with that of PS (P less than 0.005). PET studies of glucose utilization in LG revealed more widespread hypometabolism than in PS. Two siblings with dihydropteridine reductase deficiency, a patient with classical PKU, and a boy with cytochrome c oxidase deficiency showed reduced glucose utilization in the caudate and putamen. A marked decrease in glucose utilization was found in the cortical gray matter of a patient with rapidly progressive SSPE, despite relatively preserved utilization in the caudate and putamen. The PET study of a patient with slowly progressive SSPE revealed patterns and values of glucose utilization similar to those of the control. Thus, PET provided a useful clue toward understanding brain dysfunction in LG, PS, PKU, Leigh disease, and SSPE.
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PMID:Cerebral glucose utilization in pediatric neurological disorders determined by positron emission tomography. 349 26

The term epileptic encephalopathy is used to describe diffuse brain dysfunction that is caused, at least in part, by some aspect of epilepsy. Early-infantile epileptic encephalopathy (EIEE), West syndrome, late infantile epileptic encephalopathy, and Lennox-Gastaut are four epilepsy syndromes. These epilepsies are also among the most severe with dire consequences including intractable seizures and severe cognitive dysfunction. These epilepsies share several important characteristics: diverse causes; severe and frequent seizures; diffusely abnormal background activity on electroencephalograms that is often profound; medical intractability; and severe consequences for a normal development. Ohtahara proposed that these epilepsies exist on an electroclinical spectrum and that the clinical and electroencephalogram features are dependent on the maturation of the nervous system. One can now add Late Infantile Epileptogenic Encephalopathy (LIEE) or epilepsy with late-onset of epileptic spasms. Recently, similar gene mutations have been found in several different epilepsy syndromes, reinforcing the notion that these epilepsies are not likely to be distinguished based on cause alone. Recognition and accurate classification of these severe epilepsies is important as the first step toward improving treatment and outcomes.
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PMID:Epileptic encephalopathies in infants and children. 2302 99

Epileptic encephalopathies are an epileptic condition characterized by epileptiform abnormalities associated with progressive cerebral dysfunction. In the classification of the International League Against Epilepsy eight age-related epileptic encephalopathy syndromes are recognized. These syndromes include early myoclonic encephalopathy and Ohtahara syndrome in the neonatal period, West syndrome and Dravet syndrome in infancy, myoclonic status in nonprogressive encephalopathies, and Lennox-Gastaut syndrome, Landau-Kleffner syndrome, and epilepsy with continuous spike waves during slow wave sleep in childhood and adolescences. Other epileptic syndromes such as migrating partial seizures in infancy and severe epilepsy with multiple independent spike foci may be reasonably added. In this paper, we provide an overview of epileptic encephalopathies including clinical neurophysiological features, cognitive deterioration, and management options especially that these conditions are generally refractory to standard antiepileptic drugs.
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PMID:Epileptic encephalopathies: an overview. 2321 94

Epileptic encephalopathies (EE) is a term coined by the International League Against Epilepsy (ILAE) to refer to a group of epilepsies in which the ictal and interictal abnormalities may contribute to progressive cerebral dysfunction. Among them, two affect mainly children and are very difficult to deal with, Doose and Lennox-Gastaut syndromes, (DS and LGS, respectively). So far (Zavala-Yoe et al., J Integr Neurosci 15(2):205-223, 2015a and works of ours there), quantitative analysis of single case studies of EE have been performed. All of them are manifestations of drug resistant epileptic encephalopathies (DREES) and as known, such disorders require a lot of EEG studies through all patient's life. As a consequence, dozens of EEG records are stored by parents and neurologists as time goes by. However, taking into account all this massive information, our research questions (keeping colloquial wording by parents) arise: a) Which zone of the brain has been the most affected so far? b) On which year was the child better? c) How bad is our child with respect to others? We must reflect that despite clinical assessment of the EEG has undergone standardization by establishment of guidelines such as the recently published guidelines of the American Clinical Neurophysiology Society (Tsuchida et al., J Clin Neurophysiol 4(33):301-302, 2016), qualitative EEG will never be as objective as quantitative EEG, since it depends largely on the education and experience of the conducting neurophysiologist (Grant et al., Epilepsy Behav 2014(32):102-107, 2014, Rating, Z Epileptologie, Springer Med 27(2):139-142, 2014). We already answered quantitatively the above mentioned questions in the references of ours given above where we provided entropy curves and an entropy index which encompasses the complexity of bunches of EEG making possible to deal with massive data and to make objective comparisons among some patients simultaneously. However, we have refined that index here and we also offer another two measures which are spatial and dynamic. Moreover, from those indices we also provide what we call a temporal dynamic complexity path which shows in a standard 10-20 system head diagram the evolution of the lowest complexity per brain zone with respect to the EEG period. These results make it possible to compare quantitatively/graphically the progress of several patients at the same time, answering the questions posed above. The results obtained showed that we can associate low spatio-temporal entropy indices to multiple seizures events in several patients at the same time as well as tracking seizure progress in space and time with our entropy path, coinciding with neurophysiologists observations.
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PMID:Dynamic complexity measures and entropy paths for modelling and comparison of evolution of patients with drug resistant epileptic encephalopathy syndromes (DREES). 2860 Jun 32