Reflex seizure

Last updated
Reflex seizure
Specialty Neurology
Symptoms Seizures due to a specific trigger [1]
TreatmentDecreasing exposure to triggers, anti-epileptic medications [2] [3]
FrequencyRelatively rare [3]

Reflex seizures are epileptic seizures that are consistently induced by a specific stimulus or trigger, making them distinct from other epileptic seizures, which are usually unprovoked. [4] [3] Reflex seizures are otherwise similar to unprovoked seizures and may be focal (simple or complex), generalized, myoclonic, or absence seizures. [1] Epilepsy syndromes characterized by repeated reflex seizures are known as reflex epilepsies. [3] [4] Photosensitive seizures are often myoclonic, absence, or focal seizures in the occipital lobe, while musicogenic seizures are associated with focal seizures in the temporal lobe. [3]

Contents

Triggers may include various stimuli with the most common (75 to 80%) being flickering lights resulting in photosensitive seizures. [3] Reflex epilepsies are generally thought to be genetic in origin. [3] The inheritance pattern is dependent on the type of reflex epilepsy, with some types lacking specific genetic inheritance patterns. [3] For example, photogenic epilepsy is thought to follow an autosomal dominant pattern with incomplete penetrance, while seizures triggered by proprioceptive stimuli do not follow an observable inheritance pattern. [3] The underlying mechanism involves the stimulation of existing network of neurons by the specific trigger. [3]

The treatment of reflex epilepsy generally involves decreasing exposure to a person's triggers as well as anti-epileptic medications. [2] [3] Reflex epilepsy is relatively rare, making up approximately 5% of epilepsy syndromes. [3]

Signs and symptoms

Reflex seizures can be either generalized or focal seizures or both. [2] However, for any given stimulus there may be a large variation in the kind of elicited seizure. For example, reading epilepsy may cause myoclonic jerks in the jaw or may cause focal seizures in the regions of the brain responsible for reading. [2] In reflex epilepsy generalized seizures are more common than focal seizures. [5]

Generalized seizures

Generalized seizures are seizures that arise in large areas of the brain, including both hemispheres. [6] Generalized seizures can take the form of myoclonic jerks, absences, or generalized tonic-clonic seizures. [2] Myoclonic jerks are the most common generalized seizures seen among reflex seizures and can be located in the limbs, trunk, or in specific regions of the body (e.g., in the muscles of the jaw or the eyelids). Reflex absence seizures are also common, especially in response to certain kinds of triggering stimuli such as light, proprioceptive, cognitive, emotional, or linguistic. [2] Generalized tonic-clonic seizures are less common and can occur independently or more commonly after a cluster of myoclonic jerks or absence seizures. [2]

Focal seizures

Focal seizures are seizures that arise from a small area of the brain in one hemisphere. [6] Focal seizures are divided into simple or complex focal seizures. [6] Simple focal seizures do not involve the impairment of consciousness but instead may have motor, sensory, or autonomic manifestations. [6] Complex focal seizures do involve impairment or loss of consciousness. [6] Focal seizures are usually only seen in certain types of reflex epilepsies such as occipital lobe seizures in photosensitive occipital lobe epilepsies or temporal lobe seizures in musicogenic epilepsies. [2] Focal seizures can be located only in the area of the brain responsible for the stimulus, spread to other areas of the brain, or even develop into a generalized seizure. [2]

Triggers

Stimuli that cause reflex seizures can be categorized as either intrinsic or extrinsic. For a given person, the stimulus that triggers may be intrinsic, extrinsic, or a combination of both. [2]

Extrinsic stimuli

Extrinsic stimuli are sensory stimuli that originate from the person's environment. Similar to intrinsic stimuli, extrinsic stimuli can be divided into two categories, either simple or complex. [2] [7] Examples of simple extrinsic stimuli include flashing lights or touch while complex extrinsic stimuli can include music, language, reading, or stimulation from eating. [2] [7] [3] [8] Some of the more common types of reflex epilepsy include light and music. [3]

Photosensitive epilepsy is an abnormal sensitivity of the brain to visual stimuli and is the most common trigger in reflex seizures. [3] Reflex seizures can be induced by both flickering or non-flicking light, television, video games, or other visual patterns. [3] Most people who have photosensitive epilepsy are sensitive to specific patterns for visual stimuli. Visual stimuli of a particular frequency (15-25 flashes/second), wavelength (red light at 660-720 nm), and high contrast have been shown to have a higher risk of inducing seizures in people who are photosensitive. [3] In addition, emotional excitement, fatigue, or length of exposure can all effect the risk of seizures. [3]

Musicogenic epilepsy is a rare reflex epilepsy that is thought to be an abnormal sensitivity of the brain to musical stimuli, however, the exact mechanism of these seizures is unknown. [3] People with musicogenic epilepsy may have seizures triggered not just by musical stimuli but also by the emotional content or memory associated with that melody or rhythm. [3] Seizures can also be triggered when people with the condition think about certain kinds of music without actually hearing the music. [3] In addition, musicogenic epilepsy may occur with sounds that one would not usually associate with music, the sounds of machinery for example. [3] While certain types of music may induce a seizure in a certain person, listening to other kinds of music may prevent or terminate the epileptic activity. [3]

Intrinsic stimuli

Intrinsic stimuli are specific actions or activities performed by the person that result in a reflex seizure. Intrinsic stimuli can be divided into two categories, either elementary or elaborate. [2] [7] Elementary intrinsic stimuli are usually simple motor movements while elaborate intrinsic stimuli can include emotions, thoughts, calculations or decision making. [2] [7]

Thinking epilepsy is a rare form of reflex epilepsy that is triggered by a specific cognitive task. This can include thinking, calculations, solving problems, abstract reasoning, or making decisions. [3] Thinking epilepsy does not occur in response to reading, writing, or verbal communication. [3] Reading epilepsy is recognized as another distinct kind of reflex epilepsy. [3] Thinking epilepsy usually results in generalized seizures which manifest as bilateral monoclonus, absence seizures, or generalized tonic-clonic seizure that are preceded by myoclonic jerks. [3]

Cause

Although reflex seizures are thought to have a genetic component, the exact genes involved are unclear. [9] As of 2016, some genes of interest include:

Inheritance patterns and genes of interests [10] [9]
TypesInheritance patternGenes of interest
PhotosensitiveAutosomal dominant6p21

7q32 13q31 16p13

MusicogenicNone or overlaps with rare genetic epilepsiesLGI1SCN1A
ThinkingOverlaps with Idiopathic Generalized Epilepsiesnone
EatingUnknownMECP2
Hot waterAutosomal dominant10q21.3–q22.3

4q24–q28 Synapsin 1 GPR56

ReadingAutosomal dominant with incomplete penetranceNone
OrgasmNoneNone
Movement inducedNoneNone
Somatosensory inducedUnknownNone

Pathophysiology

Epileptic seizures occur due to changes in the brain that result in the lowering of the seizure threshold in a particular individual making that person vulnerable to recurring seizures. [7] These changes can be a result of a structural abnormality, brain lesions, or simply a genetic disposition to seizures. [7] In reflex epilepsy, these changes in the brain result in a small area that is capable of interrupting normal firing patterns and is more likely to produce the synchronous firing patterns that characterize a seizure. These hyper-excitable areas may then be activated by certain stimuli resulting in a reflex seizure. Reflex seizures are thus notable because the presentation of a particular stimulus, that activates the hyper-excitable areas of the brain, directly overcomes the seizure threshold, and results in a reflex seizure. [7]

The activation of the hyper-excitable areas of the brain is additionally regulated by facilitating factors that may increase the likelihood of eliciting a seizure. [7] Most commonly these include fatigue, sleep deprivation, or stress. [11] Facilitating factors are different for each individual. [11] Due to the large variance between the different kinds of reflex epilepsies, the specific mechanism causing reflex seizures may vary. [3]

Diagnosis

The diagnosis of reflex epilepsy usually includes a comprehensive medical and family history as well as a variety of tests. [12] These tests may include a electroencephalography (EEG), magnetic resonance imaging (MRI), as well as genetic testing. [12]

The procedure for diagnosing epilepsy generally follows three steps: [12]

  1. Determining if the seizure or seizure like event is truly an epileptic seizure.
  2. Determining what kind of seizure that someone has had.
  3. Determining if this seizure or seizures are a part of a specific epilepsy syndrome or disease.

Treatment

The treatment of reflex epilepsy generally involves decreasing exposure to a person's triggers as well as anti-epileptic medications. [2] [3] Specific treatment depends both on the person as well on the kind of reflex triggers. [2] For example, in photosensitive epilepsy, some people may rely only on managing exposure to their triggers, while others, may benefit greatly from anti-epileptic drugs. [2] In addition, different anti-epileptic medications may be used in order to treat a given person's reflex epilepsy depending on the kind of seizures that they experience. [2]

Photosensitive epilepsy

Photosensitive reflex epilepsy is usually treated with both lifestyle changes and anti-epileptic medications. Some lifestyle modifications that may be recommended are limiting the amount of time one is exposed to television or screens, watching television in a bright well-lit room at a distance of at least 2 meters, and avoiding television or video games when tired. LCD TV screens or Televisions with higher refresh rates (100 Hz) cause less flickering and thus lower the likelihood of a seizure. [10] [2] In addition, special blue lens Z1 glasses have been shown to reduce seizures in many people with photosensitive reflex epilepsy. [10]

If the above lifestyle modifications do not manage the condition, anti-epileptic medications may also be used. Valproate is usually the first line medication of choice in people with photosensitive reflex epilepsy with many people becoming seizure free. [10] [2] [3] Second line anti-epileptic medications include levetiracetam, benzodiazepines (such as clonazepam), lamotrigine, carbamazepine, brivaracetam, ethosuximide, and topiramate. [3] [2] [10]

Photosensitive reflex epilepsy tends to decrease with age, especially in one's thirties. [10] In 25-50% of people, seizures may spontaneously subside or disappear. [10]

Epidemiology

In 2015 epilepsy was present in about 1.3% of the population of the United States, approximately 3 million adults and 470,000 children. [13] Reflex epilepsy is found in approximately 5% of people who have epilepsy. [3] Photosensitive epilepsy is the most common type of reflex epilepsy, accounting for 75-80% of cases. [3] In addition, reflex epilepsies may show preferential distribution between the two sexes or certain age groups. Photosensitive epilepsy, for example, is more common in females (60% of cases) and is also more common in younger people (7–19 years old). [3] [2] [10]

References [3] [2] [10]
Type of epilepsyFrequencyGroups typically affected
Photosensitive1 in 4000 peopleMore common in females (60%)

More common in younger people

Musicogenic1 in 10,000,000 peopleNo sex predominance
ThinkingOverlaps with juvenile myoclonic epilepsyUnknown
Eating1 in 1000-2000 of people with epilepsyMore common in males (3:1)
Hot waterRareMore common in males (70%)
ReadingRareMore common in males (1.8:1)
OrgasmRareMore common in females
Movement inducedRareUnknown
Somatosensory inducedRareUnknown

History

Triggering seizures in epilepsy has been a phenomenon that has been observed since ancient times. [8] The Apologia records instances of a spinning potter's wheel causing seizures in epileptic slaves. [8] In 1850 Marshal Hall described the role of specific stimuli on causing seizures. [3] Since then, many types of stimuli that can trigger seizures have been identified. [3] The International League Against Epilepsy (ILAE) identified epilepsy caused by a specific stimuli in 1989 in their official definition of epilepsy and more recently, has updated this definition to recognize new types of focal and generalized seizures. [3] Currently reflex epilepsies are classified as miscellaneous types of epilepsy and are identified by the type of triggering stimulus. [8]

Related Research Articles

<span class="mw-page-title-main">Epilepsy</span> Group of neurological disorders causing seizures

Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. An epileptic seizure is the clinical manifestation of an abnormal, excessive, and synchronized electrical discharge in the neurons. The occurrence of two or more unprovoked seizures defines epilepsy. The occurrence of just one seizure may warrant the definition in a more clinical usage where recurrence may be able to be prejudged. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical activity in the brain. These episodes can result in physical injuries, either directly such as broken bones or through causing accidents. In epilepsy, seizures tend to recur and may have no detectable underlying cause. Isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epilepsy. People with epilepsy may be treated differently in various areas of the world and experience varying degrees of social stigma due to the alarming nature of their symptoms.

<span class="mw-page-title-main">Seizure</span> Period of symptoms due to excessive or synchronous neuronal brain activity

A seizure is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with loss of consciousness, to shaking movements involving only part of the body with variable levels of consciousness, to a subtle momentary loss of awareness. These episodes usually last less than two minutes and it takes some time to return to normal. Loss of bladder control may occur.

A convulsion is a medical condition where the body muscles contract and relax rapidly and repeatedly, resulting in uncontrolled shaking. Because epileptic seizures typically include convulsions, the term convulsion is often used as a synonym for seizure. However, not all epileptic seizures result in convulsions, and not all convulsions are caused by epileptic seizures. Non-epileptic convulsions have no relation with epilepsy, and are caused by non-epileptic seizures.

Absence seizures are one of several kinds of generalized seizures. In the past, absence epilepsy was referred to as "pyknolepsy," a term derived from the Greek word "pyknos," signifying "extremely frequent" or "grouped". These seizures are sometimes referred to as petit mal seizures ; however, usage of this terminology is no longer recommended. Absence seizures are characterized by a brief loss and return of consciousness, generally not followed by a period of lethargy. Absence seizures are most common in children. They affect both sides of the brain.

Photosensitive epilepsy (PSE) is a form of epilepsy in which seizures are triggered by visual stimuli that form patterns in time or space, such as flashing lights; bold, regular patterns; or regular moving patterns. PSE affects approximately one in 4,000 people.

<span class="mw-page-title-main">Myoclonus</span> Involuntary, irregular muscle twitch

Myoclonus is a brief, involuntary, irregular twitching of a muscle, a joint, or a group of muscles, different from clonus, which is rhythmic or regular. Myoclonus describes a medical sign and, generally, is not a diagnosis of a disease. It belongs to the hyperkinetic movement disorders, among tremor and chorea for example. These myoclonic twitches, jerks, or seizures are usually caused by sudden muscle contractions or brief lapses of contraction. The most common circumstance under which they occur is while falling asleep. Myoclonic jerks occur in healthy people and are experienced occasionally by everyone. However, when they appear with more persistence and become more widespread they can be a sign of various neurological disorders. Hiccups are a kind of myoclonic jerk specifically affecting the diaphragm. When a spasm is caused by another person it is known as a provoked spasm. Shuddering attacks in babies fall in this category.

Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. When myoclonic jerks are occasionally associated with abnormal brain wave activity, it can be categorized as myoclonic seizure. If the abnormal brain wave activity is persistent and results from ongoing seizures, then a diagnosis of myoclonic epilepsy may be considered.

In the field of neurology, seizure types are categories of seizures defined by seizure behavior, symptoms, and diagnostic tests. The International League Against Epilepsy (ILAE) 2017 classification of seizures is the internationally recognized standard for identifying seizure types. The ILAE 2017 classification of seizures is a revision of the prior ILAE 1981 classification of seizures. Distinguishing between seizure types is important since different types of seizures may have different causes, outcomes, and treatments.

Dravet syndrome (DS), previously known as severe myoclonic epilepsy of infancy (SMEI), is an autosomal dominant genetic disorder which causes a catastrophic form of epilepsy, with prolonged seizures that are often triggered by hot temperatures or fever. It is very difficult to treat with anticonvulsant medications. It often begins before one year of age, with six months being the age that seizures, char­ac­ter­ized by prolonged convulsions and triggered by fever, usually begin.

Idiopathic generalized epilepsy (IGE) is a group of epileptic disorders that are believed to have a strong underlying genetic basis. IGE is considered a subgroup of Genetic Generalized Epilepsy (GGE). Patients with an IGE subtype are typically otherwise normal and have no structural brain abnormalities. People also often have a family history of epilepsy and seem to have a genetically predisposed risk of seizures. IGE tends to manifest itself between early childhood and adolescence although it can be eventually diagnosed later. The genetic cause of some IGE types is known, though inheritance does not always follow a simple monogenic mechanism.

Juvenile myoclonic epilepsy (JME), also known as Janz syndrome or impulsive petit mal, is a form of hereditary, idiopathic generalized epilepsy, representing 5–10% of all epilepsy cases. Typically it first presents between the ages of 12 and 18 with myoclonic seizures. These events typically occur after awakening from sleep, during the evening or when sleep-deprived. JME is also characterized by generalized tonic–clonic seizures, and a minority of patients have absence seizures. It was first described by Théodore Herpin in 1857. Understanding of the genetics of JME has been rapidly evolving since the 1990s, and over 20 chromosomal loci and multiple genes have been identified. Given the genetic and clinical heterogeneity of JME some authors have suggested that it should be thought of as a spectrum disorder.

Unverricht–Lundborg disease is the most common form of an uncommon group of genetic epilepsy disorders called the progressive myoclonus epilepsies. It is caused due to a mutation in the cystatin B gene (CSTB). The disease is named after Heinrich Unverricht, who first described it in 1891, and Herman Bernhard Lundborg, who researched it in greater detail in 1901 and 1903. ULD onsets in children between the ages of 6 and 16; there are no known cases in which the person was older than 18. Most cases originate from the Baltic region of Europe, though many have been reported from countries in the Mediterranean.

<span class="mw-page-title-main">Generalized epilepsy</span> Epilepsy syndrome that is characterised by generalised seizures with no apparent cause

Generalized epilepsy is a form of epilepsy characterised by generalised seizures with no apparent cause. Generalized seizures, as opposed to focal seizures, are a type of seizure that impairs consciousness and distorts the electrical activity of the whole or a larger portion of the brain.

Progressive Myoclonic Epilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and neurological deterioration. The cause of PME depends largely on the type of PME. Most PMEs are caused by autosomal dominant or recessive and mitochondrial mutations. The location of the mutation also affects the inheritance and treatment of PME. Diagnosing PME is difficult due to their genetic heterogeneity and the lack of a genetic mutation identified in some patients. The prognosis depends largely on the worsening symptoms and failure to respond to treatment. There is no current cure for PME and treatment focuses on managing myoclonus and seizures through antiepileptic medication (AED).

Generally, seizures are observed in patients who do not have epilepsy. There are many causes of seizures. Organ failure, medication and medication withdrawal, cancer, imbalance of electrolytes, hypertensive encephalopathy, may be some of its potential causes. The factors that lead to a seizure are often complex and it may not be possible to determine what causes a particular seizure, what causes it to happen at a particular time, or how often seizures occur.

<span class="mw-page-title-main">Epilepsy in children</span>

Epilepsy is a neurological condition of recurrent episodes of unprovoked epileptic seizures. A seizure is an abnormal neuronal brain activity that can cause intellectual, emotional, and social consequences. Epilepsy affects children and adults of all ages and races, and is one of the most common neurological disorders of the nervous system. Epilepsy is more common among children than adults, affecting about 6 out of 1000 US children that are between the age of 0 to 5 years old. The epileptic seizures can be of different types depending on the part of the brain that was affected, seizures are classified in 2 main types partial seizure or generalized seizure.

Myoclonic astatic epilepsy (MAE), also known as myoclonic atonic epilepsy or Doose syndrome, and renamed "Epilepsy with myoclonic-atonic seizures" in the ILAE 2017 classification, is a generalized idiopathic epilepsy. It is characterized by the development of myoclonic seizures and/or myoclonic astatic seizures. Some of the common monogenic causes include mutations in the genes SLC6A1 (3p25.3),CHD2 (15q26.1), AP2M1 (10q23.2).

Jeavons syndrome is a type of epilepsy. It is one of the most distinctive reflex syndromes of idiopathic generalized epilepsy characterized by the triad of eyelid myoclonia with and without absences, eye-closure-induced seizures, EEG paroxysms, or both, and photosensitivity. Eyelid myoclonia with or without absences is a form of epileptic seizure manifesting with myoclonic jerks of the eyelids with or without a brief absence. These are mainly precipitated by closing of the eyes and lights. Eyelid myoclonia is the defining seizure type of Jeavons syndrome.

An epilepsy syndrome is defined as "a characteristic cluster of clinical and EEG features, often supported by specific etiological findings ."

Musicogenic seizure, also known as music-induced seizure, is a rare type of seizure, with an estimated prevalence of 1 in 10,000,000 individuals, that arises from disorganized or abnormal brain electrical activity when a person hears or is exposed to a specific type of sound or musical stimuli. There are challenges when diagnosing a music-induced seizure due to the broad scope of triggers, and time delay between a stimulus and seizure. In addition, the causes of musicogenic seizures are not well-established as solely limited cases and research have been discovered and conducted respectively. Nevertheless, the current understanding of the mechanism behind musicogenic seizure is that music triggers the part of the brain that is responsible for evoking an emotion associated with that music. Dysfunction in this system leads to an abnormal release of dopamine, eventually inducing seizure.

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