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Paediatric Drugs Feb 2019Childhood absence epilepsy (CAE) is a common pediatric epilepsy syndrome with distinct seizure semiology, electroencephalography (EEG) features, and treatment. A... (Review)
Review
Childhood absence epilepsy (CAE) is a common pediatric epilepsy syndrome with distinct seizure semiology, electroencephalography (EEG) features, and treatment. A diagnosis of CAE can be obtained during an office visit with a careful history, physical exam including prolonged hyperventilation, and a routine EEG. The treatment of choice for CAE with absence seizures only is ethosuximide. Valproic acid and lamotrigine are also effective treatments for many patients, but when compared to ethosuximide, valproic acid has more adverse effects and lamotrigine is less effective. Attention to predictors of response to treatment, including clinical, electrographic, and genetic factors, is increasing. Refractory CAE occurs in fewer than half of patients, and treatment strategies are available, though efficacy data are lacking. Careful assessment and treatment of psychosocial comorbidities is essential in caring for patients with CAE.
Topics: Anticonvulsants; Child; Child, Preschool; Drug-Related Side Effects and Adverse Reactions; Electroencephalography; Epilepsy, Absence; Ethosuximide; Female; Humans; Lamotrigine; Male; Practice Guidelines as Topic; Seizures; Treatment Outcome; Valproic Acid
PubMed: 30734897
DOI: 10.1007/s40272-019-00325-x -
British Medical Journal (Clinical... Apr 1982
Topics: Child; Child, Preschool; Diagnosis, Differential; Epilepsies, Myoclonic; Epilepsies, Partial; Epilepsy; Epilepsy, Absence; Epilepsy, Tonic-Clonic; Humans; Infant
PubMed: 6803925
DOI: 10.1136/bmj.284.6324.1247 -
Seizure Jan 2017Although absence seizures do predominate in childhood they may occur at all ages and clinical presentation varies widely. Albeit considered a benign seizure type,... (Review)
Review
PURPOSE
Although absence seizures do predominate in childhood they may occur at all ages and clinical presentation varies widely. Albeit considered a benign seizure type, chronic evolution with therapeutic refractoriness is possible in some patients with absences. The aim of this paper is to summarize the main syndromic presentation of absence seizures and its outcome regarding treatment and prognosis.
METHOD
We performed a review of literature with emphasis in historic and classical manuscripts about absence epilepsy.
RESULTS
Absence was described in the beginning of last century as a seizure type with good evolution, but it is still difficult to preview a strict prognosis for an individual patient. Some positive early predictors were reported such as response to initial treatment and seizure onset in childhood. Genetic aspects are not yet well understood although some families have been reported with rare mutations in ion channel coding genes.
CONCLUSION
Absence seizures are present in different epilepsy syndromes and nosological classification is not always possible. Outcome depends on clinical variables such as age of onset, presence of other seizure types and initial response to treatment.
Topics: Anticonvulsants; Electroencephalography; Epigenomics; Epilepsy, Absence; Humans; Treatment Outcome
PubMed: 27986418
DOI: 10.1016/j.seizure.2016.11.031 -
Current Neuropharmacology 2017Spike-wave discharges, underlying absence seizures, are generated within a cortico-thalamo-cortical network that involves the somatosensory cortex, the reticular... (Review)
Review
BACKGROUND
Spike-wave discharges, underlying absence seizures, are generated within a cortico-thalamo-cortical network that involves the somatosensory cortex, the reticular thalamic nucleus, and the ventrobasal thalamic nuclei. Activation of T-type voltage-sensitive calcium channels (VSCCs) contributes to the pathological oscillatory activity of this network, and some of the first-line drugs used in the treatment of absence epilepsy inhibit T-type calcium channels. The α2δ subunit is a component of high voltage-activated VSCCs (i.e., L-, N-, P/Q-, and R channels) and studies carried out in heterologous expression systems suggest that it may also associate with T channels. The α2δ subunit is also targeted by thrombospondins, which regulate synaptogenesis in the central nervous system.
OBJECTIVE
To discuss the potential role for the thrombospondin/α2δ axis in the pathophysiology of absence epilepsy.
METHODS
We searched PubMed articles for the terms "absence epilepsy", "T-type voltage-sensitive calcium channels", "α2δ subunit", "ducky mice", "pregabalin", "gabapentin", "thrombospondins", and included papers focusing this Review's scope.
RESULTS
We moved from the evidence that mice lacking the α2δ-2 subunit show absence seizures and α 2δ ligands (gabapentin and pregabalin) are detrimental in the treatment of absence epilepsy. This suggests that α2δ may be protective against absence epilepsy via a mechanism that does not involve T channels. We discuss the interaction between thrombospondins and α2δ and its potential relevance in the regulation of excitatory synaptic formation in the cortico-thalamo-cortical network.
CONCLUSION
We speculate on the possibility that the thrombospondin/α2 δ axis is critical for the correct functioning of the cortico-thalamo-cortical network, and that abnormalities in this axis may play a role in the pathophysiology of absence epilepsy.
Topics: Animals; Calcium Channels; Epilepsy, Absence; Humans; Thrombospondins
PubMed: 28290248
DOI: 10.2174/1570159X15666170309105451 -
Epilepsia May 2021Absence seizures (AS), presenting as short losses of consciousness with staring spells, are a common manifestation of childhood epilepsy that is associated with... (Meta-Analysis)
Meta-Analysis
Absence seizures (AS), presenting as short losses of consciousness with staring spells, are a common manifestation of childhood epilepsy that is associated with behavioral, emotional, and social impairments. It has also been suggested that patients with AS are more likely to suffer from mood disorders such as depression and anxiety. This systematic review and meta-analysis synthesizes human and animal models that investigated mood disorders and AS. Of the 1019 scientific publications identified, 35 articles met the inclusion criteria for this review. We found that patients with AS had greater odds of developing depression and anxiety when compared to controls (odds ratio = 4.93, 95% confidence interval = 2.91-8.35, p < .01). The included studies further suggest a strong correlation between AS and depression and anxiety in the form of a bidirectional relationship. The current literature emphasizes that these conditions likely share underlying mechanisms, such as genetic predisposition, neurophysiology, and anatomical pathways. Further research will clarify this relationship and ensure more effective treatment for AS and mood disorders.
Topics: Animals; Anxiety; Depression; Epilepsy, Absence; Humans; Seizures
PubMed: 33751566
DOI: 10.1111/epi.16862 -
Epilepsy & Behavior : E&B Nov 2020Absence epilepsy (AE) is related to both cognitive and physical impairments. In this narrative review, we critically discuss the pathophysiology of AE and the impairment... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Absence epilepsy (AE) is related to both cognitive and physical impairments. In this narrative review, we critically discuss the pathophysiology of AE and the impairment of attention in children and adolescents with AE. In particular, we contextualize the attentive dysfunctions of AE with the associated risks, such as accidental injuries.
DATA SOURCE
An extensive literature search on attention deficits and the rate of accidental injuries in AE was run. The search was conducted on Scopus, Pubmed, and the online libraries of the University of Twente and Maastricht University. Relevant references of the included articles were added. Retrospective and prospective studies, case reports, meta-analysis, and narrative reviews were included. Only studies written in English were considered. Date of last search is February 2020. The keywords used were "absence epilepsy" AND "attention"/"awareness", "absence epilepsy" AND "accidental injuries"/"accident*"/"injuries".
RESULTS
Ten retrospective and two prospective studies on cognition and AE were fully screened. Seventeen papers explicitly referring to attention in AE were reviewed. Just one paper was found to specifically focus on accidental injuries and AE, while twelve studies generally referring to epilepsy syndromes - among which AE - and related accidents were included.
CONCLUSION
Absence epilepsy and attention deficits show some patterns of pathophysiological association. This relation may account for dysfunctions in everyday activities in the pediatric population. Particular metrics, such as the risk related to biking in children with AE, should be used in future studies to address the problem in a novel way and to impact clinical indications.
Topics: Accidents; Adolescent; Child; Cognitive Dysfunction; Epilepsy, Absence; Humans; Prospective Studies; Retrospective Studies
PubMed: 32861896
DOI: 10.1016/j.yebeh.2020.107342 -
Brain Research Jan 2019Voluntary hyperventilation triggers seizures in the vast majority of people with absence epilepsy. The mechanisms that underlie this phenomenon remain unknown. Herein,... (Review)
Review
Voluntary hyperventilation triggers seizures in the vast majority of people with absence epilepsy. The mechanisms that underlie this phenomenon remain unknown. Herein, we review observations - many made long ago - that provide insight into the relationship between breathing and absence seizures.
Topics: Brain; Cerebral Cortex; Epilepsy, Absence; Humans; Hyperventilation; Respiration; Seizures; Thalamus
PubMed: 29288644
DOI: 10.1016/j.brainres.2017.12.037 -
Absence epilepsy in male and female WAG/Rij rats: A longitudinal EEG analysis of seizure expression.Epilepsy Research Oct 2021The WAG/Rij strain of rats is commonly used as a preclinical model of genetic absence epilepsy. While widely utilized, the developmental trajectory of absence seizure...
The WAG/Rij strain of rats is commonly used as a preclinical model of genetic absence epilepsy. While widely utilized, the developmental trajectory of absence seizure expression has been only partially described. Moreover, sex differences in this strain have been under-explored. Here, we longitudinally monitored male and female WAG/Rij rats to quantify cortical spike-and-wave discharges (SWDs) monthly, from 4 to 10 months of age. In both male and female WAG/Rij rats, absence seizure susceptibility increased with age. In contrast to previous reports, we found a robust and consistent increase in absence epilepsy susceptibility in male WAG/Rij rats in comparison to females across months. The increased absence seizure susceptibility was characterized by increased number and duration of SWDs, and consequently increased total SWDs duration. These findings highlight a previously un-recognized sex difference in a model of absence epilepsy and narrow the knowledge gap of age-dependent expression of SWDs in the WAG/Rij strain.
Topics: Animals; Disease Models, Animal; Electroencephalography; Epilepsy, Absence; Female; Male; Rats; Rats, Wistar; Seizures
PubMed: 34225231
DOI: 10.1016/j.eplepsyres.2021.106693 -
Proceedings of the National Academy of... Mar 2022A growing number of gain-of-function (GOF) BK channelopathies have been identified in patients with epilepsy and movement disorders. Nevertheless, the underlying...
A growing number of gain-of-function (GOF) BK channelopathies have been identified in patients with epilepsy and movement disorders. Nevertheless, the underlying pathophysiology and corresponding therapeutics remain obscure. Here, we utilized a knock-in mouse model carrying human BK-D434G channelopathy to investigate the neuronal mechanism of BK GOF in the pathogenesis of epilepsy and dyskinesia. The BK-D434G mice manifest the clinical features of absence epilepsy and exhibit severe motor deficits and dyskinesia-like behaviors. The cortical pyramidal neurons and cerebellar Purkinje cells from the BK-D434G mice show hyperexcitability, which likely contributes to the pathogenesis of absence seizures and paroxysmal dyskinesia. A BK channel blocker, paxilline, potently suppresses BK-D434G–induced hyperexcitability and effectively mitigates absence seizures and locomotor deficits in mice. Our study thus uncovered a neuronal mechanism of BK GOF in absence epilepsy and dyskinesia. Our findings also suggest that BK inhibition is a promising therapeutic strategy for mitigating BK GOF-induced neurological disorders.
Topics: Animals; Channelopathies; Dyskinesias; Epilepsy, Absence; Humans; Large-Conductance Calcium-Activated Potassium Channels; Mice; Neurons; Seizures
PubMed: 35286197
DOI: 10.1073/pnas.2200140119 -
Epilepsia 1998The mesiofrontal cortex comprises a number of distinct anatomic and functional areas. Structural lesions and cortical dysgenesis are recognized causes of mesial frontal... (Review)
Review
The mesiofrontal cortex comprises a number of distinct anatomic and functional areas. Structural lesions and cortical dysgenesis are recognized causes of mesial frontal epilepsy, but a specific gene defect may also be important, as seen in some forms of familial frontal lobe epilepsy. The predominant seizure manifestations, which are not necessarily strictly correlated with a specific ictal onset zone, are absence, hypermotor, and postural tonic seizures. Other seizure types also occur. The task of localization of the epileptogenic zone can be challenging, whether EEG or imaging methods are used. Successful localization can lead to a rewarding outcome after epilepsy surgery, particularly in those with an imaged lesion.
Topics: Adolescent; Adult; Electrodes, Implanted; Electroencephalography; Epilepsy, Absence; Epilepsy, Frontal Lobe; Frontal Lobe; Gyrus Cinguli; Humans; Magnetic Resonance Imaging; Motor Cortex; Radionuclide Imaging; Treatment Outcome
PubMed: 9637593
DOI: 10.1111/j.1528-1157.1998.tb05125.x