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KBG syndrome mimicking genetic generalized epilepsy [PDF]
Epilepsy & Behavior Reports, 2022 •Several conditions may mimic Genetic Generalized Epilepsy GGE.•GGE is less frequently misdiagnosed compared to other subtypes of epilepsy.•KBG syndrome is a rare autosomal dominant condition.•KBG syndrome may mimic GGE.
M.J. Murphy +5 more
doaj +5 more sources
A natural marmoset model of genetic generalized epilepsy [PDF]
Molecular Brain, 2022 Epilepsy has been extensively studied as a common neurological disease. Efforts have been made on rodent and other animal models to reveal the pathogenic mechanisms of epilepsy and develop new drugs for treatment.
Xiangyu Yang +10 more
doaj +5 more sources
Genetic generalized epilepsy and generalized onset seizures with focal evolution (GOFE) [PDF]
Epilepsy & Behavior Reports, 2022 “Generalized Onset with Focal Evolution” (GOFE) is an underrecognized seizure type defined by an evolution from generalized onset to focal activity during the same ictal event. We aimed to discuss electroclinical aspects of GOFE and to emphasize its link
Florian Lamy +8 more
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Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. [PDF]
PLoS ONE, 2018 Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi ...
Cha Gon Lee, Jeehun Lee, Munhyang Lee
doaj +2 more sources
Neuropsychological-EEG Activation in Genetic Generalized Epilepsy
Pediatric Neurology Briefs, 2015 Investigators from Lithuanian University of Health Sciences, Kaunas, evaluated the effects of neuropsychological activation (NPA) tasks on epileptiform discharges (ED) in adolescents with idiopathic generalized epilepsy (IGE) and in comparison with ...
J Gordon Millichap, John J Millichap
doaj +5 more sources
New onset status epilepticus in influenza associated encephalopathy: The presenting manifestation of genetic generalized epilepsy [PDF]
Epilepsy & Behavior Reports, 2021 We hereby present a case of a young woman with no history of seizures or epilepsy who experienced a de novo generalized Non Convulsive Status Epilepticus (NCSE) followed by encephalopathy lasting for several days during influenza B infection.
G. Giovannini +4 more
doaj +2 more sources
EEG in genetic generalized epilepsies
Эпилепсия 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
Electroencephalography in the Diagnosis of Genetic Generalized Epilepsy Syndromes. [PDF]
Front Neurol, 2017 Genetic generalized epilepsy (GGE) consists of several syndromes diagnosed and classified on the basis of clinical features and electroencephalographic (EEG) abnormalities. The main EEG feature of GGE is bilateral, synchronous, symmetric, and generalized spike-wave complex.
Seneviratne U, Cook MJ, D'Souza WJ.
europepmc +6 more sources
Genetic generalized epilepsies [PDF]
Epilepsia, 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
A Novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy [PDF]
, 2013 Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In
Alessandra Maresca +11 more
core +18 more sources