Results 21 to 30 of about 28,537 (282)

EEG in genetic generalized epilepsies

open access: yesЭпилепсия и пароксизмальные состояния, 2020
Genetic, or idiopathic, generalized epilepsies (GGEs or IGEs) includes childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and epilepsy with generalized tonic-clonic seizures alone (GTCS-a).Aim.
V. Yu. Nogovitsyn, A. A. Sharkov
doaj   +3 more sources

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture [PDF]

open access: yes, 2023
: Epilepsy is a highly heritable disorder affecting over 50\u2009million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into
Hung, Po-Cheng   +318 more
core   +6 more sources

A Rare Epilepsy Type: Eating Epilepsy

open access: yesArchives of Epilepsy, 2017
Eating epilepsy is a rare type of reflex epilepsy. Genetic factors, types of food, and eating habits are important. Presently described is case of a 28-year-old man with simple partial and secondary generalized epilepsy, provoked especially by fatty or ...
Zeynep ÖZÖZEN AYAS, Ayhan BÖLÜK
doaj   +2 more sources

Genetic generalized epilepsies [PDF]

open access: yesEpilepsia, 2018
SummaryThe genetic generalized epilepsies (GGEs) are mainly genetically determined disorders. Although inheritance in most cases appears to be complex, involving multiple genes, variants of a number of genes are known to contribute. Pathogenic variants of SLC2A1 leading to autosomal‐dominant GLUT1 deficiency account for up to 1% of cases, increasing to
Saul A. Mullen, Samuel F. Berkovic
openaire   +5 more sources

Genetic mechanisms in generalized epilepsies

open access: yesActa Epileptologica, 2023
AbstractThe genetic generalized epilepsies (GGEs) have been proved to generate from genetic impact by twin studies and family studies. The genetic mechanisms of generalized epilepsies are always updating over time. Although the genetics of GGE is complex, there are always new susceptibility genes coming up as well as copy number variations which can ...
Xiaoqian Wang   +3 more
openaire   +3 more sources

Problems of diagnosing focal cortical dysplasia

open access: yesЭпилепсия и пароксизмальные состояния, 2021
Focal cortical dysplasia (FCD) is one of the most common causes in developing pharmacoresistant epilepsy. We present the clinical case of the patient with generalized seizures.
K. D. Yakovleva   +2 more
doaj   +1 more source

Heart rate and conductivity disorders in juvenile myoclonic epilepsy: genetic predictors

open access: yesЭпилепсия и пароксизмальные состояния, 2021
General practitioners, therapists, and cardiologists do not have formal education (training) regarding cerebrocardial syndrome, primarily heart rhythm and conduction disorders in epilepsy and sudden unexpected death in epilepsy (SUDEP), as well as the ...
N. A. Shnayder   +4 more
doaj   +1 more source

The association between epilepsy and COVID-19: analysis based on Mendelian randomization and FUMA

open access: yesFrontiers in Neuroscience, 2023
ObjectiveA multitude of observational studies have underscored a substantial comorbidity between COVID-19 and epilepsy. This study was aimed at establishing a conclusive causal link between these two conditions.MethodsWe employed Mendelian randomization (
Mingyao You   +5 more
doaj   +1 more source

The Relationship of Familial EEG Characteristics with Age and Gender in Primary Generalized Epilepsy

open access: yesBagcilar Medical Bulletin, 2022
Objective:Epilepsy is basically a group of electrical brain dysfunctions, in which many factors play a role in its etiology. Less is known about primary generalized epilepsies than focal epilepsies. Most forms of them are thought to have a genetic basis.
Özlem Bizpınar Munis   +1 more
doaj   +1 more source

Inherited Epilepsies

open access: yesBezmiâlem Science, 2020
Mutations in genes encoding the formation of ion channels may cause epileptic syndromes. These epileptic syndromes are generally divided into generalized and partial epilepsies.
Halil Aziz VELİOĞLU   +1 more
doaj   +1 more source

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