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)

Myoclonic astatic epilepsy (MAE) belongs to the epilepsies with generalized seizures. MAE occurs in 1-2% of all childhood epilepsies up to age 9. This disease is characterized by various clinical and EEG criteria. The course of this epileptic syndrome is variable but influenced by an early diagnosis and by a specific treatment.
 ...
PMID:[Clinical case of the month. Myoclonic-astatic epilepsy in a young child (MAE) or Doose syndrome]. 1207 89

Myoclonic astatic epilepsy (MAE) is a genetically determined condition of childhood onset characterized by multiple generalized types of seizures including myoclonic astatic seizures, generalized spike waves and cognitive deterioration. This condition has been reported in a few patients in generalized epilepsy with febrile seizures plus (GEFS+) families and MAE has been considered, like severe myoclonic epilepsy of infancy (SMEI), to be a severe phenotype within the GEFS+ spectrum. Four genes have been identified in GEFS+ families, but only three (SCN1A, SCNlB, GABRG2) were found in MAE patients within GEFS+ families. We analysed these three genes in a series of 22 sporadic patients with MAE and found no causal mutations. These findings suggest that MAE, unlike SMEI, is not genetically related to GEFS+. Although MAE and SMEI share the same types of seizures, only SMEI patients are sensitive to fever. This is probably its main link to GEFS+. A different family of genes is likely to account for MAE.
 ...
PMID:Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. 1464 97

Seizure disorders are relatively common in childhood, and the International League Against Epilepsy (ILAE) provides a hierarchical classification system to define seizure types. At the final level of classification, specific epilepsy syndromes are defined that represent a complex of signs and symptoms unique to an epilepsy condition. The present review discusses the issues related to several of these epilepsy syndromes in childhood, including those classified as generalized idiopathic epilepsies (e.g., childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy), focal epilepsies (benign rolandic epilepsy, occipital epilepsy, temporal lobe epilepsy, frontal lobe epilepsy) and the "epileptic encephalopathies," including Dravet's Syndrome, West Syndrome, Lennox-Gastaut Syndrome, Myoclonic Astatic Epilepsy, and Landau-Kleffner Syndrome. For each syndrome, the epidemiology, clinical manifestations, treatments, and neuropsychological findings are discussed.
 ...
PMID:Neuropsychological deficits in childhood epilepsy syndromes. 1796 43

Myoclonic astatic epilepsy (MAE) is a rare childhood generalized epilepsy syndrome of unknown incidence and etiology. Onset may be explosive with a myriad of different seizure types and children may become severely affected with an epileptic encephalopathy. This disorder may be particularly sensitive to the ketogenic diet (KD). This article will briefly review the background, diagnostic criteria's and our current information regarding the use of dietary therapies in MAE.
 ...
PMID:Myoclonic astatic epilepsy and the use of the ketogenic diet. 2163 15

Myoclonic astatic epilepsy (MAE) is characterized by multiple seizure types, which are often refractory. Although vagus nerve stimulation (VNS) is an alternative treatment for medically intractable seizures, its exact mechanism of action remains unclear. Herein, we report the case of a 4-year-old boy with intractable MAE who has been in a seizure-free status for 2 years and 3 months since 6 months after the implantation of a vagus nerve stimulator (Model 103, Cyberonics, Inc., Houston, TX). Various test results 6 months after VNS were compared with those before VNS. Results of an electroencephalograph revealed disappearance of epileptiform discharges and an increased beta-gamma spectrum rhythm. The brain diffusion-tensor imaging showed an increased ratio of fraction anisotropy in the right fimbria-fornix, indicating improved diffusion of the white matter tract, and (18)F-fluorodeoxyglucose positron emission tomography revealed globally improved cerebral glucose metabolism. His cognitive and social-emotional performances also improved at 2 years after VNS. To the best of our knowledge, this is the first report to describe the effects of VNS on fimbria-fornix and glucose metabolism in MAE.
...
PMID:Neuroimaging and electroencephalographic changes after vagus nerve stimulation in a boy with medically intractable myoclonic astatic epilepsy. 2364 63

In this paper a nonlinear filtering algorithm for count time series is developed that takes the non-negativity of the data into account and preserves positive definiteness of the covariance matrices of the model. For this purpose, a recently proposed variant of Kalman Filtering based on Singular Value Decomposition is incorporated into Iterative Extended Kalman Filtering, in order to estimate the states of a nonlinear state space model. The resulting algorithm is applied to the evaluation and design of therapies for patients suffering from Myoclonic Astatic Epilepsy, employing time series of daily seizure rate. The analysis provides a decision whether for a specific patient a particular anti-epileptic drug is increasing or reducing the seizure rate. Through a simulation study the proposed algorithm is validated. Additionally, for clinical data results obtained by the proposed algorithm are compared with the results from a Cox-Stuart trend test as well as with the visual assessment of experienced pediatric epileptologists.
 ...
PMID:SVD Square-root Iterated Extended Kalman Filter for Modeling of Epileptic Seizure Count Time Series with External Inputs. 3194 73