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Mutations in the GABRB3 have been recently associated with childhood absence epilepsy (CAE) in families from Honduras and Mexico. In this study, we aimed to determine the frequency of mutation in this gene in our cohort of families with CAE and other related idiopathic generalized epilepsy (IGE) syndromes. We screened the open reading frame of GABRB3 in 183 French‐Canadian individuals with IGE, including...
Purpose: Generalized epilepsies are clinically and genetically heterogeneous syndromes. Idiopathic generalized epilepsy (IGE), which has a strong genetic background, is not associated with any additional clinical features, such as mental retardation (MR). Herein we report results of linkage analysis in a large family with autosomal dominant (AD) generalized epilepsy associated with MR.
Methods: ...
We report findings concerning the relationship between electroencephalography (EEG) frequency during spike‐and‐wave discharges (SWDs) and response to treatment in 21 patients with idiopathic generalized epilepsy (IGE). We studied patients whose EEG contained SWDs lasting at least 4 s. Among these patients, two groups could be distinguished on the basis of a subtle difference in EEG frequency during...
Purpose: Patients with idiopathic generalized epilepsies (IGEs) often present with interictal spike‐wave discharges (SWDs) at rest (spontaneous SWDs), during hyperventilation, and in response to photic stimulation (photoparoxysmal response or PPR). Valproic acid (VPA) is a first‐line antiepileptic drug for therapy of patients with IGE. Herein we investigated the effect of VPA on all three types of...
15q13.3 microdeletions are the most common genetic findings identified in idiopathic generalized epilepsies to date, and they are present in up to 1% of patients. In addition, 15q13.3 microdeletions have been described in patients with epilepsy as part of a complex neurodevelopmental phenotype. We analyzed a cohort of 570 patients with various pediatric epilepsies for 15q13.3 microdeletions. Screening...
Purpose: By definition idiopathic generalized epilepsy (IGE) is not associated with structural abnormalities on conventional magnetic resonance imaging (MRI). However, recent quantitative studies suggest white and gray matter alterations in IGE. The purpose of this study was to investigate whether there are white and/or gray matter structural differences between controls and two subsets of IGE, namely...
Purpose: To evaluate the long‐term efficacy and tolerability of adjunctive levetiracetam (LEV) in patients with uncontrolled idiopathic generalized epilepsy (IGE).
Methods: This phase III, open‐label, long‐term, follow‐up study (N167; NCT00150748) enrolled patients (4 to <65 years) with primary generalized seizures (tonic–clonic, myoclonic, absence). Patients received adjunctive LEV at individualized...
Purpose: Electroencephalography–functional magnetic resonance imaging (EEG‐fMRI) coregistration has recently revealed that several brain structures are involved in generalized spike and wave discharges (GSWDs) in idiopathic generalized epilepsies (IGEs). In particular, deactivations and activations have been observed within the so‐called brain default mode network (DMN) and thalamus, respectively...
Purpose: To assess the visual system excitability of photosensitive patients with idiopathic generalized epilepsy (IGE) with the paired‐pulse flash‐evoked potential (paired F‐VEP) technique.
Methods: We studied 19 photosensitive patients with IGE (16 women) showing a photoparoxysmal electroencephalographic (EEG) response (PPR). Twenty‐two normal subjects of similar age and sex acted as controls...
Epilepsy and migraine are common neurologic chronic disorders with episodic manifestations characterized by recurrent attacks and a return to baseline conditions between attacks. Epilepsy and migraine are frequently observed in comorbidity, with the occurrence of one disorder increasing the probability of the other: Migraine occurs in about one‐fourth of patients with epilepsy, whereas epilepsy is...
Purpose: To better understand the nature of the focal spike‐wave discharges (FSWDs) and focally led generalized spike‐wave discharges (GSWDs) in typical childhood absence epilepsy (CAE) and by implication their nosologic and taxonomic significance.
Methods: Twenty‐four abnormal video‐electroencephalography (EEG) studies from 13 consecutive children with CAE and good response to appropriate antiepileptic...
Purpose: Eyelid myoclonia with absences (EM) is an uncommon type of absence seizure associated with a variety of epilepsy syndromes. The syndrome of epilepsy with EM (EMA) has been proposed to denote the onset of frequent EM induced by eye closure and photic stimulation beginning in childhood. The clinical genetics of EMA has not been well characterized, although a family history of seizures is not...
Purpose: The rapid forgetting of information over long (but not short) delays (accelerated long‐term forgetting [ALF]) has been associated with temporal lobe epilepsy but not idiopathic generalized epilepsy (IGE). Long‐term memory formation (consolidation) is thought to demand an interaction between medial temporal and neocortical networks, which could be disrupted by epilepsy/seizures themselves...
PurposeStructural variations disrupting the gene encoding the neuron‐specific splicing regulator RBFOX1 have been reported in three patients exhibiting epilepsy in comorbidity with other neuropsychiatric disorders. Consistently, the Rbfox1 knockout mouse model showed an increased susceptibility of seizures. The present candidate gene study tested whether exon‐disrupting deletions of RBFOX1 increase...
PurposeNeurexins are neuronal adhesion molecules located in the presynaptic terminal, where they interact with postsynaptic neuroligins to form a transsynaptic complex required for efficient neurotransmission in the brain. Recently, deletions and point mutations of the neurexin 1 (NRXN1) gene have been associated with a broad spectrum of neuropsychiatric disorders. This study aimed to investigate...
PurposeUp to 30% of patients with idiopathic generalized epilepsy (IGE) have seizures that are refractory to medication despite appropriate therapy that commonly includes valproate (VPA). The aim of this study was to compare patients with VPA‐refractory and VPA‐responsive IGE in order to determine whether there are group differences in generalized spike and wave discharge (GSWD) generators that may...
ObjectiveAberrant thalamocortical network has been hypothesized to play a crucial role in the fundamental pathogenesis underlying idiopathic generalized epilepsy (IGE). We aimed to investigate alterations of thalamocortical functional network in patients with IGE using thalamic seed‐based functional connectivity (FC) analysis, and their relationships with frontal cognitive functions and clinical characteristics...
ObjectiveBirth weight is an important indicator of prenatal environment, and subtle variations of birth weight within the normal range have been associated with differential risk for cognitive and behavioral problems. Therefore, we aimed to determine if there are differences in birth weight between full‐term children with uncomplicated new/recent‐onset epilepsies and typically developing healthy controls...
PurposeJuvenile myoclonic epilepsy (JME) is a well‐defined subsyndrome of idiopathic generalized/genetic epilepsy. It is allegedly related to specific personality characteristics and has been associated with unfavorable social outcome. We aimed to analyze psychosocial outcome in patients with JME. To delineate consequences of the chronic seizure disorder from possible neurobiologic contributions being...
ObjectiveStudies using quantitative neuroimaging have shown subtle abnormalities in patients with idiopathic generalized epilepsy (IGE). These findings have several locations, but the midline parasagittal structures are most commonly implicated. The cingulate cortex is related and may be involved. The objective of the current investigation was to perform a comprehensive analysis of the cingulate cortex...
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