Results 31 to 40 of about 53,382 (296)
Epilepsy & Behavior Reports, 2021 We report a patient with a 6q22.1 deletion, who presented with a rare syndrome of generalized epilepsy, myoclonic tremor, and intellectual disability. There was no clinical progression after follow-up for more than 10 years.
Kazuhiro Haginoya +11 more
doaj +1 more source
Genetic epilepsy with febrile seizures plus – an overview [PDF]
Romanian Journal of Neurology, 2021 Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small ...
Madalina Radu +3 more
doaj +1 more source
Genetics of Idiopathic Generalized Epilepsies [PDF]
Epilepsia, 2005 Summary: The idiopathic generalized epilepsies (IGEs) are considered to be primarily genetic in origin. They encompass a number of rare mendelian or monogenic epilepsies and more common forms which are familial but manifest as complex, non‐mendelian traits. Recent advances have demonstrated that many monogenic IGEs are ion channelopathies.
openaire +2 more sources
The role of thalamic nuclei in genetic generalized epilepsies
Epilepsy Research, 2022 There is no doubt on the participation of the thalamus in the various types of genetic generalized epilepsies as evidenced by multiple non-invasive imaging studies in humans as well as invasive studies in animal models of GGE. Based on human and mostly animal data gathered in early 2000 a so called 'three compartment model' on seizure generation was ...
Luttjohann, A.K. +2 more
openaire +4 more sources
Generalized epilepsies: current conceptions and therapeutic approaches
Неврология, нейропсихиатрия, психосоматика, 2012 The concepts of generalized epilepsy have recently undergone considerable changes: the features of focality in generalized epilepsies and the typical features of idiopathic generalized epilepsies in focal epilepsies have been revealed.
L R Zenkov
doaj +1 more source
Unmasking of myoclonus by lacosamide in generalized epilepsy
Epilepsy and Behavior Case Reports, 2017 Lacosamide is a new-generation antiseizure medication that is approved for use as an adjunctive treatment and monotherapy in focal epilepsy. Its use in generalized epilepsy, however, has not been adequately evaluated in controlled trials.
Daniel Birnbaum, Mohamad Koubeissi
doaj +1 more source
Automatic epilepsy detection using fractal dimensions segmentation and GP-SVM classification [PDF]
, 2018 Objective: The most important part of signal processing for classification is feature extraction as a mapping from original input electroencephalographic (EEG) data space to new features space with the biggest class separability value.
Jirka, Jakub +3 more
core +1 more source
Heliyon, 2022 Objective: Estimate sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of EEG findings: centrotemporal spikes, photoparoxysmal response, asymmetric photic driving, and asymmetric sleep spindles, for epilepsy ...
Mohammed Ashour +6 more
doaj +1 more source
The Sodium Channel B4-Subunits are Dysregulated in Temporal Lobe Epilepsy Drug-Resistant Patients [PDF]
, 2020 Temporal lobe epilepsy (TLE) is the most common type of partial epilepsy referred for surgery due to antiepileptic drug (AED) resistance. A common molecular target for many of these drugs is the voltage-gated sodium channel (VGSC).
Falciani, Francesco +4 more
core +1 more source
DNM1 encephalopathy: A new disease of vesicle fission. [PDF]
, 2017 ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A +38 more
core +2 more sources