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Seizure Jul 2017In consequence of newer research juvenile myoclonic epilepsy (JME) is no longer seen as a homogeneous disease. The causes of the existing variance are only partially... (Review)
Review
In consequence of newer research juvenile myoclonic epilepsy (JME) is no longer seen as a homogeneous disease. The causes of the existing variance are only partially known yet. We discuss to what extent the phenotypical spectrum of this polygenetically determined disorder expresses genetically defined endophenotypes, or is due to mere quantitative differences in the expression of the core phenotype. Of the three common seizure types of JME, myoclonic, generalized tonic-clonic and absences, absences also occur independently and are strong candidates for an endophenotype. Focal features may in some patients be seen in clinical seizures or the EEG but rarely in both. They have no morphological correlates. In a system epilepsy, local manifestations are possible, and some are due to reflex mechanisms. Of the four reflex epileptic traits common in JME, photosensitivity and praxis induction appear related to basic mechanisms of the core syndrome, whereas language-induced orofacial reflex myocloni and eye closure sensitivity are also seen in other clinical contexts and therefore seem to represent endophenotypes. Cognitive abnormalities indicating slight frontal lobe dysfunction seem to be ubiquitous in JME and are also seen in unaffected siblings of patients. Cluster B personality disorder is found in 1/3 of patients, representing a more severe expression of the underlying pathology. Treatment response and prognosis seem to be affected by an interplay of the described factors producing the severest end of the JME spectrum. The spectrum appears to be due to an interaction of stronger or weaker expression of the core phenotype with various endophenotypes.
Topics: Electroencephalography; Humans; Myoclonic Epilepsy, Juvenile; Phenotype; Prognosis
PubMed: 28544889
DOI: 10.1016/j.seizure.2017.05.011 -
Aging and Disease Jul 2021Reflex seizures (RS) are epileptic events that are objectively and consistently elicited in response to a specific afferent stimulus or by an activity of the patient.... (Review)
Review
Reflex seizures (RS) are epileptic events that are objectively and consistently elicited in response to a specific afferent stimulus or by an activity of the patient. The specific stimulus can be a variety of heterogenous intrinsic or extrinsic factors, ranging from the simple to the complex, such as flashing lights or reading a book. These seizures can take a variety of forms, comprising either general or focal onset, with or without secondary generalization. Reflex epilepsies (RE) are classified as a specific syndrome in which all epileptic seizures are precipitated by sensory stimuli. The few designated RE include idiopathic photosensitive occipital lobe epilepsy, other visual sensitive epilepsies, primary reading epilepsy, and startle epilepsy. RS that occurs within other focal or generalized epilepsy syndromes that are associated with distinct spontaneous seizures are classified by the overarching seizure type. Most patients experience spontaneous seizures along with their provoked events. RS originate from stimulation of functional anatomic networks normally functioning for physiological activities, that overlap or coincide with regions of cortical hyperexcitability. Generalized RS typically occur within the setting of IGEs and should be considered as focal seizures with quick secondary generalization via cortico-cortical or cortico-reticular pathways. In aggregate, activation of a critical neuronal mass, supported and sustained by cortico-subcortical and thalamocortical pathways eventually result in a seizure. Treatment includes antiseizure medication, commonly valproate or levetiracetam, along with lifestyle modifications, and when amenable, surgical intervention. High clinical suspicion and careful history taking must be employed in all epilepsy patients to identify reflex triggers.
PubMed: 34221545
DOI: 10.14336/AD.2021.0216 -
Developmental Medicine and Child... Mar 2021Sunflower syndrome is a rare photosensitive epilepsy which has received little attention in recent medical literature. The historical cases documenting the epilepsy's... (Review)
Review
Sunflower syndrome is a rare photosensitive epilepsy which has received little attention in recent medical literature. The historical cases documenting the epilepsy's stereotyped handwaving motion in front of light characterized the behavior as self-inducing seizures via mimic of stroboscopic effect. However, the relationship between handwaving episodes and attendant generalized electroencephalogram abnormalities, and an appreciation of the compulsive attraction the sun and other light sources hold for these patients, suggest the handwaving motion may be a part of the seizure rather than a mechanism of self-induction. The lack of awareness of Sunflower syndrome often leads to misdiagnosis. The seizures are often refractory to traditional anticonvulsant medication, and patients resort to behavioral intervention, such as hats and sunglasses, to reduce handwaving episodes. Further study is required to determine the syndrome's natural history and to identify more effective treatment options. WHAT THIS PAPER ADDS: Sunflower syndrome is a rare condition that is often misdiagnosed. Awareness of the clinical and electroencephalogram characteristics of Sunflower syndromemay reduce the prevalence of misdiagnosis.
Topics: Anticonvulsants; Epilepsy, Reflex; Humans; Photic Stimulation; Syndrome
PubMed: 33135153
DOI: 10.1111/dmcn.14723 -
Neurology India 2023
Topics: Humans; Urination; Epilepsy, Reflex; Reflex
PubMed: 38174496
DOI: 10.4103/0028-3886.391379 -
Neuropsychiatric Disease and Treatment 2018Reflex epilepsies (REs) are identified as epileptic seizures that are consistently induced by identifiable and objective-specific triggers, which may be an afferent... (Review)
Review
Reflex epilepsies (REs) are identified as epileptic seizures that are consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity. RE may have different subtypes depending on the stimulus characteristic. There are significant clinical and electrophysiologic differences between different RE types. Visual stimuli-sensitive or photosensitive epilepsies constitute a large proportion of the RE and are mainly related to genetic causes. Reflex epilepsies may present with focal or generalized seizures due to specific triggers, and sometimes seizures may occur spontaneously. The stimuli can be external (light flashes, hot water), internal (emotion, thinking), or both and should be distinguished from triggering precipitants, which most epileptic patients could report such as emotional stress, sleep deprivation, alcohol, and menstrual cycle. Different genetic and acquired factors may play a role in etiology of RE. This review will provide a current overview of the triggering factors and management of reflex seizures.
PubMed: 29403278
DOI: 10.2147/NDT.S107669 -
Aging and Disease Jul 2021The journal "Aging and Disease" has released a special issue focused on novel concepts in understanding the pathophysiology and treatment of neurological and...
The journal "Aging and Disease" has released a special issue focused on novel concepts in understanding the pathophysiology and treatment of neurological and neurodegenerative disorders. The special issue comprises review and original research articles discussing the various disease mechanisms and/or treatment updates on aging, mild cognitive impairment, dementia, acute stroke, pediatric stroke, super-refractory status epilepticus, reflex epilepsy, drug-resistant epilepsy, Parkinson's disease, and traumatic brain injury. This editorial discusses the highlights from these articles.
PubMed: 34221540
DOI: 10.14336/AD.2021.0530 -
Epilepsia 2004Since the first case of videogame (VG) epilepsy was reported in 1981, many cases of seizures triggered by VGs were reported, not only in photosensitive, but also in... (Review)
Review
Since the first case of videogame (VG) epilepsy was reported in 1981, many cases of seizures triggered by VGs were reported, not only in photosensitive, but also in non-photosensitive children and adolescents with epilepsy. We provide an overview of the literature with overall conclusions and recommendations regarding VG playing. Specific preventive measures concerning the physical characteristics of images included in commercially available VGs (flash rate, choice of colors, patterns, and contrast) can lead in the future to a clear decrease of this problem. In addition to the positive effect of such measures, the collaborative studies performed in France and in the rest of Europe have stressed the importance of a safe distance to the screen of > or = 2 m, and the less provocative role of 100-Hz screens.
Topics: Adolescent; Child; Epilepsy, Reflex; Humans; Multicenter Studies as Topic; Photic Stimulation; Video Games
PubMed: 14706041
DOI: 10.1111/j.0013-9580.2004.451003.x -
Seizure Aug 2017The authors review the influence of photic stimuli on the generation of epileptic seizures, addressing the first descriptions of the phenomenon and its subsequent... (Review)
Review
The authors review the influence of photic stimuli on the generation of epileptic seizures, addressing the first descriptions of the phenomenon and its subsequent exploration. Initially defined in the 1950's, links between intermittent photic stimulation (IPS) and seizures were well understood by the 1970. Since then the increasing exposure to photic stimuli associated with modern life (for instance through TVs, patterns, computer games and electronic instruments with flickering displays) has led to an increased interest in this issue. Diverse stimulation procedures have been described and difference in the effects of stimulation frequencies and types, colour and lighting have been recognised. Approximately 5% of patients with epilepsy have photosensitive epilepsy (PSE). PSE is commoner in younger individuals, more frequent in women, often time-limited, generally easy to treat and closely related to generalised epilepsies, especially Juvenile Myoclonic Epilepsy (JME). Structural and functional studies of PSE indicate abnormalities beyond the frontal lobes and evidence for the role of the visual cortex in human PSE. A reduction in connectivity between prefrontal and frontopolar regions and increased connectivity between occipital cortex and the supplementary motor area may be the basis for triggering motor seizures in JME. Due to the changes observed in such areas, it is hypothesised that photoparoxysmal responses (PPR) could be a final expression of pathogenic phenomena in the striato-thalamocortical system, and possibly a core feature of JME as system epilepsy. The familial transmission of epileptiform responses to IPS is well-recognised, but no clear relation between PSE and specific genes has emerged. Although the influence of ethnic factors on PSE has been widely studied, clear conclusions are still lacking. Pharmacological therapeutic approaches are beyond the scope of this review although preventive measures allowing patients to avoid PS seizure initiation and/or generalisation are discussed. Given the gender/age group most commonly affected by PSE, the risks and benefits of drug treatment need to be carefully weighed up.
Topics: Animals; Brain; Epilepsy, Reflex; Female; Humans; Male; Risk Factors; Sex Factors
PubMed: 28532712
DOI: 10.1016/j.seizure.2017.04.001 -
International Neurourology Journal Mar 2018Micturition is a complex process involving the bladder, spinal cord, and the brain. Highly sophisticated central neural program controls bladder function by utilizing... (Review)
Review
Micturition is a complex process involving the bladder, spinal cord, and the brain. Highly sophisticated central neural program controls bladder function by utilizing multiple brain regions, including pons and suprapontine structures. Periaqueductal grey, insula, anterior cingulate cortex, and medial prefrontal cortex are components of suprapontine micturition centers. Under pathologic conditions such as epilepsy, urinary dysfunction is a frequent symptom and it seems to be associated with increased suprapontine cortical activity. Interestingly, micturition can also trigger seizures known as reflex epilepsy. During voiding behavior, frontotemporal cortical activation has been reported and it may induce reflex seizures. As current researches are only limited to present clinical cases, more rigorous investigations are needed to elucidate biological mechanisms of micturition to advance our knowledge on the process of micturition in physiology and pathology.
PubMed: 29609418
DOI: 10.5213/inj.1836040.020 -
Buffalo Medical Journal Nov 1895
PubMed: 36887363
DOI: No ID Found