The Infona portal uses cookies, i.e. strings of text saved by a browser on the user's device. The portal can access those files and use them to remember the user's data, such as their chosen settings (screen view, interface language, etc.), or their login data. By using the Infona portal the user accepts automatic saving and using this information for portal operation purposes. More information on the subject can be found in the Privacy Policy and Terms of Service. By closing this window the user confirms that they have read the information on cookie usage, and they accept the privacy policy and the way cookies are used by the portal. You can change the cookie settings in your browser.
Migraine and epilepsy are comorbid conditions that have many clinical similarities. There are also cellular physiologic similarities, and some antiepileptic drugs are prophylactic in migraine, suggesting common pathophysiologic elements. The most compelling evidence comes from familial hemiplegic migraine, in which migraine and epilepsy can be caused by mutations in the same gene. For an expanded...
Lafora disease (EPM2A and EPM2B genes); myoclonus epilepsy with ragged red fibers; or MERRF (mtDNA tRNA genes), and Dentatorubral‐pallidoluysian atrophy or DRPLA (ATN1 gene) are three severe forms of progressive myoclonus epilepsy. The corresponding gene defects have been identified and molecular diagnosis is now widely available. Recent advances in genetics and molecular biology offer promising venues...
Findings obtained from surgical specimens of epilepsy patients and animal models of epilepsy demonstrate dysfunction of astrocytes in epilepsy. Specifically, gap junction coupling, glutamate uptake, and K+ buffering are compromised. In epilepsy models, astroglial alterations occur very early after status epilepticus, suggesting their crucial involvement in the process of epileptogenesis. For an expanded...
Spontaneous mutation of the gene encoding theP/Q voltage‐gated calcium ion channel alpha subunit proved to be the first identified cause of absence epilepsy, and subsequent exploration of other members within this gene family has had a major impact on our understanding of how inherited errors of single genes lead to specific epileptic phenotypes. For an expanded treatment of this topic see Jasper’s Basic Mechanisms of the Epilepsies, Fourth Edition...
The onset, progression, and severity of epilepsy vary between family members with identical mutations in primary disease genes. The background of genetic variation unique to each individual genome contributes to clinical variation. Known examples of gene interactions in human families and mouse models provide insight into underlying molecular mechanisms. For an expanded treatment of this topic see...
Mutations in the Aristaless‐related homeobox gene (ARX) are linked to infantile spasms and other developmental epilepsies. How loss of Arx leads to epilepsy is not well understood. This review will discuss the spectrum of Arx disorders and the emerging evidence, from animal models, of the function of Arx during development and the potential role in generating an epilepsy phenotype. For an expanded...
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of brief motor seizures. This rare syndrome is caused by mutations in at least two subunit genes of the neuronal nicotinic acetylcholine receptor (nAChR). Some of these mutations seem to increase the risk for additional neurologic symptoms. For an expanded treatment of this topic see Jasper’s Basic Mechanisms of the Epilepsies, Fourth Edition...
γ‐Aminobutyric acid (GABA)A receptors are ligand‐gated chloride channels that mediate fast synaptic inhibition in the brain. Recently, loss‐of‐function mutations have been identified in four different GABAA subunits, in rare but distinct forms of familial idiopathic generalized epilepsy. These results provide important insights into the pathogenesis of the disease. For an expanded treatment of this...
The causative genes for lissencephaly—including LIS1, DCX, and TUBA1A—highlight the importance of a microtubule‐based transport pathway in cortical development and potentially in pathogenesis of focal cortical dysplasias. For an expanded treatment of this topic see Jasper’s Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado‐Escueta AV, eds) published...
The developmental origins of cortical and hippocampal interneurons in the rodent are discussed, in addition to a description of the transcriptional mechanisms that control their specification and differentiation. For an expanded treatment of this topic see Jasper’s Basic Mechanisms of the Epilepsies, Fourth Edition (Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado‐Escueta AV, eds) published by...
Neurotransmitters released from active synapses stimulate receptors on glia, which produce a neuromodulatory response by gliotransmitter release. When a local inflammatory reaction is induced in the brain by epileptogenic events, microglia and astrocytes are activated and release proinflammatory mediators, consequently the neuron–glia signaling may be perturbed, thereby provoking increased neuronal...
The thalamocortical system consists of widespread excitatory connections between cortical and subcortical structures. Synaptic excitation and inhibition play subcircuit‐specific roles in its function. Generalized absence seizures result from either increased/decreased inhibition or excitation, depending on the subcircuit, yet a common feature of absence seizures in thalamus is net increased inhibition,...
Very fast oscillations (VFOs; >70–80 Hz) precede and superimpose upon electrographic seizures. Knowing the cellular mechanisms of VFOs may offer clues to therapy. In vitro models, and ultrastructural and network modeling data, suggest that VFOs are generated by electrical coupling between principal neurons, and that VFOs are favored by the suppression of chemical neurotransmission. For an expanded...
Pathologic high‐frequency oscillations, believed to reflect basic neuronal disturbances responsible for epilepsy, are promising biologic markers that may be used in clinical studies to optimize surgical treatment of medically refractory epilepsy, and studies that seek to develop new therapies for treatment, and possible prevention, of epilepsy. For an expanded treatment of this topic see Jasper’s Basic Mechanisms of the Epilepsies, Fourth Edition...
Voltage‐gated calcium channels contribute to the control of excitability at both the cellular and neural network levels. Alterations in the expression or biophysical properties of specific subtypes of calcium channels can have pathophysiologic effects on the frequency and patterns of action potential firing and causally contribute to epileptic seizures. For an expanded treatment of this topic see...
γ‐Aminobutyric acid (GABA) mediates both fast synaptic inhibition and a tonic form of signaling that depends on high‐affinity, extrasynaptic GABAA receptors. Tonic inhibition may contribute to the generation of spike‐wave discharges. Because they have a profound effect on circuit excitability, tonically active GABAA receptors represent an important therapeutic target. For an expanded treatment of...
Enhanced glutamate synaptic transmission may be expected to alter the balance of excitation and inhibition in brain, leading to seizures. Several differences between epileptic and nonepileptic brains in presynaptic and postsynaptic glutamate mechanisms have been reported. These findings suggest that altered glutamate mechanisms contribute to the hyperexcitability of epileptic brain. For an expanded...
Chronic intermittent ethanol (CIE) treatment and withdrawal in rats produces behavioral changes that models human alcohol dependence, including increased seizure susceptibility, and can be explained by plastic changes in inhibitory neurotransmission involving γ‐aminobutyric acid (GABA)A receptors. For an expanded treatment of this topic see Jasper’s Basic Mechanisms of the Epilepsies, Fourth Edition...
Brain derived neurotrophic factor (BDNF) regulates diverse neuronal functions and plasticity, and its expression is increased by seizures. Here we review the evidence that actions of BDNF at TrkB receptors contribute to temporal lobe epilepsy. In addition, regulation of BDNF by steroid hormones might explain syndromes such as catamenial epilepsy. For an expanded treatment of this topic see Jasper’s Basic Mechanisms of the Epilepsies, Fourth Edition...
Epilepsy often results from a brain insult. Herein, I describe the complex time‐dependent alterations in glutamatergic and γ‐aminobutyric acid (GABA)ergic circuitry triggered by the initial insult. I will relate these modifications to the occurrence of the first spontaneous seizure, the development of epileptogenic networks, and associated cognitive deficits. For an expanded treatment of this topic...
Set the date range to filter the displayed results. You can set a starting date, ending date or both. You can enter the dates manually or choose them from the calendar.