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

Progressive myoclonus epilepsy (PME) is a syndrome complex encompassing different diagnostic entities. Among the 30 cases of PME studied during 1982 and 1992 at the National Institute of Mental Health and Neurosciences, Bangalore, South India, the specific diagnoses included Lafora disease (LD), neuronal ceroid lipofuscinosis (NCL). Unverricht-Lundborg disease (ULD), and myoclonus epilepsy and ragged-red fibres (MERRF). We discuss the familial nature of PME and the clinical and electrophysiological abnormalities in asymptomatic siblings. Eight cases of LD were in three different families with 3 affected siblings in two families (L1, L2) and 2 siblings in the third family (L3). Occipital seizures and behavioral changes occurred in all 3 members of L1 but were absent in the other two families. Age of onset was similar in two families (L1, 11 years; L2, 14.5 years), but not in the third. Presymptomatic EEG abnormalities were observed as long as 6 years before onset in L2. ULD occurred in 2 sisters in one family. Both had identical clinical features and normal somatosensory evoked potentials (SSEPs). The asymptomatic sister of the patient MERRF had abnormal EEG and giant SSEPs for the past 2 years. Thus, although all variations are evident in the overall clinical pattern in each of the PME, affected member of individuals families tend to be similar. Once an index case is identified, electrophysiologic tests (EEG and SSEP) may be useful in identifying other affected siblings in the presymptomatic stage.
 ...
PMID:Familial progressive myoclonus epilepsy: clinical and electrophysiologic observations. 761 18

We report on clinical, electrophysiological, neuroradiological, and morphological data from 19 patients with different types (late infantile, juvenile, and adult) of neuronal ceroid-lipofuscinosis (NCL), observed in the last 10 years at the Neurological Institute of Milan. Late Infantile NCL (LINCL) (8 patients, 4m/4f). Age at onset: 2-4 1/2 years. Seizures (6 patients) or decline of mental capacities (2 patients) were the presenting symptoms, followed by myoclonus and ataxia; visual loss and optic atrophy occurred in 6 patients within 3 years. All but 2 children became bedridden within 3 1/2 years. CT and MRI demonstrated different degrees of cerebral and cerebellar atrophy within 3 years from onset of the disease. Ultrastructural studies showed fingerprint profiles (FP) and osmiophilic bodies (OB) in circulating lymphocytes; curvilinear bodies (CB) and FP were detected in eccrine secretory cells. Juvenile NCL (JNCL) (7 patients, 4m/3f). Age at onset: 6-9 years. Visual loss with retinal degeneration was the presenting symptoms, accompanied in all but 2 patients by slight mental impairment. Seizures occurred within 2-4 years. CT and MRI detected cerebral or cerebellar atrophy in those patients (5 patients) with a clinical follow-up longer than 4 years. Electron microscopy showed FP on circulating lymphocytes, and both FP and CB on skin biopsy specimens. Adult NCL (ANCL) (4 patients, 3 m/1f). Age at onset: 12-50 years. Progressive myoclonus epilepsy (1 patient) or dementia with motor disturbances (3 patients) were the clinical phenotypes of the disease. MRI demonstrated cerebral and cerebellar atrophy within 6 years from onset. Electron microscopy disclosed FP in cytoplasmic vacuoles inside eccrine secretory cells.
 ...
PMID:Neuronal ceroid-lipofuscinosis: a clinical and morphological study of 19 patients. 766 17

Based on five case studies, the suggestion is that, if physiological myoclonus can be excluded, antidepressant - or neuroleptic-induced myoclonus must as a rule be presumed to be a most subtle indication of increased cerebral exitability, an epileptic fragment or, in some instances, a myoclonus epilepsy. In each of the reported cases EEG recordings reflected epilepsy-specific potentials. Whether, however, the scope of differences in the EEG recordings and the N1/P1 amplitude increase of the SSEP may be used as an additional diagnostic criterion to determine the risk of epileptic seizures, should depend on the type of myoclonus chiefly induced. This would require more extensive neurophysiological examinations which should mainly include the back-averaging to permit, beside the EEG, a better evaluation of the relatively easily obtainable SSEP findings.
 ...
PMID:[Psychotropic drug-induced myoclonus]. 776 44

The interpretation of the results of the use of vigabatrin (VGB) in generalized seizures and epilepsies in children has been difficult. Most studies have assessed patients on the basis of both seizure type and epilepsy syndrome and the numbers of patients have been small. Some 'generalized' epilepsy syndromes (specifically the Lennox-Gastaut syndrome) are characterized by multiple seizure types which are frequently not analysed individually in terms of drug response. By contrast West syndrome is easier to evaluate as the spasms are the only, and characteristic, seizure type. Vigabatrin has been used as both add-on, and monotherapy in the treatment of spasms. The results of add-on studies suggest that symptomatic spasms respond best, with 40-100% of children becoming spasm-free and many others showing a reduction in seizures of over 50%. The limited, reported data on VGB-monotherapy in West syndrome have been encouraging with over 50% of patients experiencing a total and sustained control of seizures with minimal or no adverse events; however, the pattern of response (symptomatic cases responding better than cryptogenic cases), has not, as yet, been confirmed. The 'non-progressive' myoclonic epilepsies tend to be exacerbated with 25-50% of patients experiencing an increase in seizure frequency; this is an interesting observation in view of the improvement seen in infantile spasms, which are also classified as a myoclonic seizure. The use of VGB in other generalized seizures and epilepsy syndromes has been neither assessed, nor reported. This reflects the fact that these seizures/syndromes are easily and well controlled using the 'older' anti-epileptic drugs.
Seizure 1995 Mar
PMID:Vigabatrin in the management of generalized seizures in children. 778 6

Recent advances in neuroepidemiologic and molecular biological techniques have facilitated a growing understanding of the role that inherited factors play in epileptogenesis. During the last few years linkage analysis has mapped gene loci associated with the following epilepsy syndromes: benign familial neonatal convulsions, juvenile myoclonic epilepsy, Unverricht-Lundborg/Baltic/Mediterranean progressive myoclonic epilepsies, the juvenile form of ceroid lipofuscinosis, sialidosis I, and the myoclonus epilepsy with ragged red fibers (MERRF) syndrome. In addition, characterization of the inheritance patterns of other syndromes such as childhood epilepsy with occipital paroxysms and febrile convulsions has improved. It is apparent that a significant amount of clinical and genetic heterogeneity exists, which emphasizes the importance of accurate clinical classification. As genetic markers are found for well-defined groups of patients, traditional means of classification (seizure type, pathologic markers, progressive course, etc.) become less meaningful. It is proposed that the components of the phenotype of an epilepsy syndrome (eg, age of onset, seizure type, electroencephalographic pattern) may be controlled by multiple genes.
 ...
PMID:Inherited epilepsies of childhood. 782 47

A new autosomal recessively inherited disease of the central nervous system involving childhood epilepsy and mental deterioration is described. Twenty three patients (11 males and 12 females) belonging to 11 families from northern Finland have been identified. A common ancestor has been found for nine families. The mean age of onset of epilepsy was 6.7 years (range 5-10 years) and the epilepsy was characterised by generalised tonic-clonic seizures increasing in frequency up to puberty. One third of the patients also had complex partial seizures during childhood. During young adulthood the epileptic activity began to decrease, but complete remission did not occur. Electroencephalography showed progressive slowing of the background activity with relatively scanty epileptiform activity. Out of four ictal recordings the paroxysmal activity was initiated focally in two cases. Clonazepam and sodium valproate had some antiepileptic effect, clonazepam being the more beneficial of the two. Mental development, which was originally normal, began to deteriorate two to five years after the onset of epilepsy, and the deterioration continued during adulthood in spite of good epilepsy control, leading to mental retardation by middle age. The pathogenesis of the disorder, called the Northern epilepsy syndrome, is unknown. Linkage analysis using DNA markers linked to the EPM1 gene for progressive myoclonus epilepsy of Unverricht-Lundborg type showed that the Northern epilepsy syndrome is not allelic to EPM1.
 ...
PMID:Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. 801 63

Studies of the genetics of epilepsy have, until recently, involved epidemiologic or segregation analyses of phenotypic characteristics of a number of seizure disorders. Technical advances in molecular biology involving gene mapping and gene identification have made it possible to examine the heritability of various epilepsy syndromes. Using "reverse genetics" or positional cloning, it is possible to identify an abnormal protein through gene isolation and cloning. Genes are localized through analysis of linkage to phenotypic markers (proteins) or DNA markers such as restriction fragment length polymorphisms, variable number of tandem repeats, and dinucleotides. Methods used to obtain DNA of interest involve digestion of genomic DNA with specific restriction endonucleases or amplification of DNA by polymerase chain reaction technology. Gel electrophoresis is the basis for the separation of different sized DNA. Inherited disorders for which a gene has been cloned or localized have highly penetrant, well-defined clinical phenotypes with no remissions and abundant clinical material. Genetic epilepsies, however, are variably penetrant age-dependent disorders with heterogeneous clinical phenotypes. Despite these difficulties, three genetic epilepsies have been mapped to specific chromosomes: benign familial neonatal convulsions to 20q, juvenile myoclonic epilepsy to 6p, and Baltic progressive myoclonus epilepsy to 21q. Further progress in understanding genetic epilepsies will depend on better definition of syndrome phenotypes, isolation of the epilepsy gene(s), and identification of the abnormal protein(s).
 ...
PMID:Genetics of epilepsy: an overview. 809 8

We describe a patient with progressive myoclonus epilepsy (late-onset Lafora's disease). Onset was in early adult life, and death was at age fifty-four. The initial symptoms were epileptic seizures and progressive dementia, with later occurrence of myoclonus. Lafora bodies were ubiquitous and in neuronal perikarya in many areas. Dust-like granular bodies predominated in the neuropil of cerebral cortex, substantia nigra, and striatum. Abnormal deposits were also found in the myocardium.
 ...
PMID:Late-onset Lafora's disease with typical intraneuronal inclusions. 817 May 76

The mitochondrion is the only extranuclear organelle containing DNA (mtDNA). As such, genetically determined mitochondrial diseases may result from a molecular defect involving the mitochondrial or the nuclear genome. The first is characterized by maternal inheritance and the second by Mendelian inheritance. Ragged-red fibers (RRF) are commonly seen with primary lesions of mtDNA, but this association is not invariant. Conversely, RRF are seldom associated with primary lesions of nuclear DNA. Large-scale rearrangements (deletions and insertions) and point mutations of mtDNA are commonly associated with RRF and lactic acidosis, e.g. Kearns-Sayre syndrome (KSS) (major large-scale rearrangements), Pearson syndrome (large-scale rearrangements), myoclonus epilepsy with RRF (MERRF) (point mutation affecting tRNA(lys) gene), mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) (two point mutations affecting tRNA(leu)(UUR) gene) and a maternally-inherited myopathy with cardiac involvement (MIMyCa) (point mutation affecting tRNA(leu)(UUR) gene). However, RRF and lactic acidosis are absent in Leber hereditary optic neuropathy (LHON) (one point mutation affecting ND4 gene, two point mutations affecting ND1 gene, and one point mutation affecting the apocytochrome b subunit of complex III), and the condition associated with maternally inherited sensory neuropathy (N), ataxia (A), retinitis pigmentosa (RP), developmental delay, dementia, seizures, and limb weakness (NARP) (point mutation affecting ATPase subunit 6 gene). The point mutations in MELAS, MIMyCa, and MERRF, and the large-scale mtDNA rearrangements in KSS and Pearson syndrome have a broader biochemical impact since these molecular defects involve the translational sequence of mitochondrial protein synthesis. The nuclear defects involving mitochondrial function generally are not associated with RRF. The biochemical classification of mitochondrial diseases principally catalogues these nuclear defects. This classification divides mitochondrial diseases into five categories. Primary and secondary deficiencies of carnitine are examples of a substrate transport defect. A lipid storage myopathy is often present. Disturbances of pyruvate or fatty acid metabolism are examples of substrate utilization defects. Only four defects of the Krebs cycle are known: fumarase deficiency, dihydrolipoyl dehydrogenase deficiency, alpha-ketoglutarate dehydrogenase deficiency, and combined defects of muscle succinate dehydrogenase and aconitase. Luft disease is the singular example of a defect in oxidation-phosphorylation coupling. Defects of respiratory chain function are manifold. Two clinical syndromes predominate, one involving limb weakness, and the other primarily affecting brain function. Leigh syndrome may result from different enzyme defects, most notably pyruvate dehydrogenase complex deficiency, cytochrome c oxidase deficiency, complex I deficiency, and complex V deficiency associated with the recently described NARP point mutation. A new group of mitochondrial diseases has emerged.(ABSTRACT TRUNCATED AT 400 WORDS)
 ...
PMID:The expanding clinical spectrum of mitochondrial diseases. 833 7

Approximately 10% of patients with systemic lupus erythematosus (SLE) develop epileptic seizures. When occurring before the onset of generalized SLE, the seizures are mainly primary generalized. Accordingly, long-term treatment with anti-epileptic drugs may precipitate SLE, or epilepsy and SLE may both occur as manifestations of a genetically determined predisposition. Some patients develop IgA deficiency during phenytoin treatment. This condition is reversible and IgA becomes normalized when phenytoin is withdrawn (drug-induced IgA deficiency). Some epileptic patients have a drug-independent IgA deficiency. Patients with drug-induced IgA deficiency are usually HLA-A2, while those with drug-independent IgA deficiency are HLA-A1,B8. The gene coding for IgA deficiency seems to be located in the HLA complex on chromosome 6. The gene locus for juvenile myoclonus epilepsy and related disorders is also on chromosome 6 and in close relation to the gene locus for the HLA system. Juvenile myoclonic epilepsy may be accompanied by drug-induced IgA deficiency, but there are also cases with other sometimes less-defined epilepsies, associated with this anomaly. It is possible that the relationship between epilepsy and immune disturbances is related to a common genetically determined susceptibility.
 ...
PMID:Immunological aspects of epilepsy. 833 10


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>