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Tonic–clonic Seizures with repetitive sequences of stiffening and jerking of the extremities.
Myoclonic Seizures with rapid, brief contractions of muscles.
Atonic Seizures with a sudden loss of muscle tone, often resulting in sudden collapse. These are also called drop seizures.
Absence A generalized seizure characterized by staring off and occasionally some orofacial automatisms.
Myoclonic astatic Seizures that involve a myoclonic seizure followed immediately by an atonic seizure. This type of seizure is exclusive to MAE and is one of the defining characteristics of this syndrome.
Tonic Muscle stiffening or rigidity. This seizure is rare in this syndrome.
Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy that occurs in patients aged 8 to 20 years. Patients have normal cognition and are otherwise neurologically intact. The most common seizure is myoclonic jerks, although generalized tonic-clonic seizures and absence seizures may occur as well. Myoclonic jerks usually cluster in the early morning after awakening. The EEG reveals generalized 4–6 Hz spike wave discharges or multiple spike discharges. These patients are often first diagnosed when they have their first generalized tonic-clonic seizure later in life, when they experience sleep deprivation (e.g., freshman year in college after staying up late to study for exams). Alcohol withdrawal can also be a major contributing factor in breakthrough seizures, as well. The risk of the tendency to have seizures is lifelong; however, the majority have well-controlled seizures with anticonvulsant medication and avoidance of seizure precipitants.
Frontal lobe epilepsy, usually a symptomatic or cryptogenic localization-related epilepsy, arises from lesions causing seizures that occur in the frontal lobes of the brain. These epilepsies can be difficult to diagnose because the symptoms of seizures can easily be confused with nonepileptic spells and, because of limitations of the EEG, be difficult to "see" with standard scalp EEG.
Juvenile absence epilepsy is an idiopathic generalized epilepsy with later onset than CAE, typically in prepubertal adolescence, with the most frequent seizure type being absence seizures. Generalized tonic-clonic seizures can occur. Often, 3 Hz spike-wave or multiple spike discharges can be seen on EEG. The prognosis is mixed, with some patients going on to a syndrome that is poorly distinguishable from JME.
Myoclonus can be described as brief jerks of the body; it can involve any part of the body, but it is mostly seen in limbs or facial muscles. The jerks are usually involuntary and can lead to falls. EEG is used to read brain wave activity. Spike activity produced from the brain is usually correlated with brief jerks seen on EMG or excessive muscle artifact. They usually occur without detectable loss of consciousness and may be generalized, regional or focal on the EEG tracing. Myclonus jerks can be epileptic or not epileptic. Epileptic myoclonus is an elementary electroclinical manifestation of epilepsy involving descending neurons, whose spatial (spread) or temporal (self-sustained repetition) amplification can trigger overt epileptic activity.
Myoclonic jerks that are not epileptic may be due to a nervous system disorder or other metabolic abnormalities that may arise in renal (e.g. hyperuraemia) and liver failure (e.g. high ammonia states).
There are six main types of generalized seizures: tonic-clonic, tonic, clonic, myoclonic, absence, and atonic seizures. They all involve a loss of consciousness and typically happen without warning.
- Tonic-clonic seizures present with a contraction of the limbs followed by their extension, along with arching of the back for 10–30 seconds. A cry may be heard due to contraction of the chest muscles. The limbs then begin to shake in unison. After the shaking has stopped it may take 10–30 minutes for the person to return to normal.
- Tonic seizures produce constant contractions of the muscles. The person may turn blue if breathing is impaired.
- Clonic seizures involve shaking of the limbs in unison.
- Myoclonic seizures involve spasms of muscles in either a few areas or generalized through the body.
- Absence seizures can be subtle, with only a slight turn of the head or eye blinking. The person often does not fall over and may return to normal right after the seizure ends, though there may also be a period of post-ictal disorientation.
- Atonic seizures involve the loss of muscle activity for greater than one second. This typically occurs bilaterally (on both sides of the body).
A seizure can last from a few seconds to more than five minutes, at which point it is known as status epilepticus. Most tonic-clonic seizures last less than two or three minutes. Absence seizures are usually around 10 seconds in duration.
The onset of seizures is between the ages of 2 and 5. EEG shows regular and irregular bilaterally synchronous 2- to 3-Hz spike-waves and polyspike patterns with a 4- to 7-Hz background. 84% of affected children show normal development prior to seizures; the remainder show moderate psychomotor retardation mainly affecting speech. Boys (74%) are more often affected than girls (Doose and Baier 1987a).
The clinical manifestations of absence seizures vary significantly among patients. Impairment of consciousness is the essential symptom, and may be the only clinical symptom, but this can be combined with other manifestations. The hallmark of the absence seizures is abrupt and sudden-onset impairment of consciousness, interruption of ongoing activities, a blank stare, possibly a brief upward rotation of the eyes. If the patient is speaking, speech is slowed or interrupted; if walking, they stand transfixed; if eating, the food will stop on its way to the mouth. Usually, the patient will be unresponsive when addressed. In some cases, attacks are aborted when the patient is called. The attack lasts from a few seconds to half a minute, and evaporates as rapidly as it commenced. Absence seizures generally are not followed by a period of disorientation or lethargy (post-ictal state), in contrast to the majority of seizure disorders.
1. Absence with impairment of consciousness only as per the above description.
2. Absence with mild clonic components. Here the onset of the attack is indistinguishable from the above, but clonic components may occur in the eyelids, at the corner of the mouth, or in other muscle groups which may vary in severity from almost imperceptible movements to generalised myoclonic jerks. Objects held in the hand may be dropped.
3. Absence with atonic components. Here there may be a diminution in tone of muscles subserving posture as well as in the limbs leading to dropping of the head, occasionally slumping of the trunk, dropping of the arms, and relaxation of the grip. Rarely tone is sufficiently diminished to cause this person to fall.
4. Absence with tonic components. Here during the attack tonic muscular contraction may occur, leading to increase in muscle tone which may affect the extensor muscles or the flexor muscles symmetrically or asymmetrically. If the patient is standing, the head may be drawn backward and the trunk may arch. This may lead to retropulsion, which may cause eyelids to twitch rapidly, eyes may jerk upwards or the patients head may rock back and forth slowly, as if nodding. The head may tonically draw to one or another side.
5. Absence with automatisms. Purposeful or quasipurposeful movements occurring in the absence of awareness during an absence attack are frequent and may range from lip licking and swallowing to clothes fumbling or aimless walking. If spoken to, the patient may grunt, and when touched or tickled may rub the site. Automatisms are quite elaborate and may consist of combinations of the above described movements or may be so simple as to be missed by casual observation.
6. Absence with autonomic components. These may be pallor, and less frequently flushing, sweating, dilatation of pupils and incontinence of urine.
Mixed forms of absence frequently occur.
These seizures can happen a few times a day or in some cases hundreds of times a day, to the point that the person cannot concentrate in school or in other situations requiring sustained, concentrated attention.
Generalized seizures can be either absence seizures, myoclonic seizures, clonic seizures, tonic-clonic seizures or atonic seizures.
Generalized seizures occur in various seizure syndromes, including myoclonic epilepsy, familial neonatal convulsions, childhood absence epilepsy, absence epilepsy, infantile spasms (West's syndrome), Juvenile Myoclonic Epilepsy and Lennox-Gastaut syndrome.
These syndromes are childhood absence epilepsy, epilepsy with myoclonic absences, juvenile absence epilepsy and juvenile myoclonic epilepsy. Other proposed syndromes are Jeavons syndrome (eyelid myoclonia with absences), and genetic generalised epilepsy with phantom absences.
These types of seizures are also known to occur to patients suffering with porphyria and can be triggered by stress or other porphyrin-inducing factors.
Dravet syndrome has been characterized by prolonged febrile and non-febrile seizures within the first year of a child’s life. This disease progresses to other seizure types like myoclonic and partial seizures, psychomotor delay, and ataxia. It is characterized by cognitive impairment, behavioral disorders, and motor deficits. Behavioral deficits often include hyperactivity and impulsiveness, and in more rare cases, autistic-like behaviors. Dravet syndrome is also associated with sleep disorders including somnolence and insomnia. The seizures experienced by people with Dravet syndrome become worse as the patient ages since the disease is not very predictable when first diagnosed. This coupled with the range of severity differing between each individual diagnosed and the resistance of these seizures to drugs has made it challenging to develop treatments.
Dravet syndrome appears during the first year of life, often beginning around six months of age with frequent febrile seizures (fever-related seizures). Children with Dravet syndrome typically experience a lagged development of language and motor skills, hyperactivity and sleep difficulties, chronic infection, growth and balance issues, and difficulty relating to others. The effects of this disorder do not diminish over time, and children diagnosed with Dravet syndrome require fully committed caretakers with tremendous patience and the ability to closely monitor them.
Febrile seizures are divided into two categories known as simple and complex. A febrile seizure would be categorized as complex if it has occurred within 24 hours of another seizure or if it lasts longer than 15 minutes. A febrile seizure lasting less than 15 minutes would be considered simple. Sometimes modest hyperthermic stressors like physical exertion or a hot bath can provoke seizures in affected individuals. However, any seizure uninterrupted after 5 minutes, without a resumption of postictal (more normal; recovery-type; after-seizure) consciousness can lead to potentially fatal status epilepticus.
Eyelid myoclonia, not the absences, is the hallmark of Jeavons syndrome.
Eyelid myoclonia consists of marked jerking of the eyelids often associated with jerky upwards deviation of the eyeballs and retropulsion of the head (eyelid myoclonia without absences). This may be associated with or followed by mild impairment of consciousness (eyelid myoclonia with absences). The seizures are brief (3–6 s), and occur mainly and immediately after closing of the eyes (eye closure) and consistently many times a day. All patients are photosensitive.
Generalised tonic-clonic seizures, either induced by lights or spontaneous, are probably inevitable in the long term and are provoked particularly by precipitating factors (sleep deprivation, alcohol) and inappropriate AED modifications.
Myoclonic jerks of the limbs may occur, but are infrequent and random.
Eyelid myoclonic status epilepticus, either spontaneous (mainly on awakening) or photically induced, occurs in a fifth of patients. It consists of repetitive and discontinuous episodes of eyelid myoclonia with mild absence, rather than continuous non- convulsive absence status epilepticus.
Onset is typically in childhood with a peak at age 6–8 years (range 2–14 years). There is a twofold preponderance of girls. Prevalence and incidence is probably low.
Signs of JME are brief episodes of involuntary muscle twitching occurring early in the morning or shortly before falling asleep. This does not usually result in the person falling, but rather dropping objects. These muscle twitching episodes are more common in the arms than in the legs. Other seizure types such as generalized tonic-clonic and absence seizures can also occur. Patients often report quick jerking movements in the morning that results in knocking over objects such as their morning orange juice. Clusters of myoclonic seizures can lead to absence seizures, and clusters of absence seizures can lead to generalized tonic-clonic seizures. The onset of symptoms is generally around age 10-16 although some patients can present in their 20s or even early 30s. The myoclonic jerks generally precede the generalized tonic-clonic seizures by several months. Some people with the disorder never get generalized tonic-clonic seizures (GTCs). Sleep deprivation is a major factor in triggering GTCs. College students often present with a GTC after "pulling an all-nighter." Patients with JME generally do not have other neurological problems.
All tests apart from the EEG are normal. Video-EEG is the single most important procedure for the diagnosis of eyelid myoclonia with or without absences. It shows frequent high-amplitude 3–6 Hz generalized discharges of mainly polyspikes and waves. These are brief (1–6 s, commonly 2 or 3 s) and they are typically related to eye closure, i.e. they occur immediately (within 0.5–2 s) after closing the eyes in an illuminated recording room.
Eyelid myoclonia of varying severity often occurs during these EEG discharges. Photoparoxysmal discharges induced by photic stimulation occur in all untreated young patients, but may be absent in older patients or those on medication.
Sleep EEG patterns are normal and generalized discharges are more likely to increase during sleep, but may also decrease. The EEG and clinical manifestations deteriorate consistently after awakening. A normal EEG is rare, even in well-controlled patients.
Originally called Doose syndrome, epilepsy with myoclonic-astatic seizures accounts for ~2% of childhood epilepsies. Children with this disorder have incredibly brief (<100ms) myoclonic jerks followed by equally brief loss of muscle tone, sometimes resulting in dangerous falls. Some patients have much longer lasting seizures of this type. Many patients with this disorder also have absence seizures. This is believed to be a polygenic disorder.
The age of onset of seizures is typically between three and five, though onset can occur at an earlier or later age. The syndrome shows clear parallels to West syndrome, enough to suggest a connection.
Daily multiple seizures are typical in LGS. Also typical is the broad range of seizures that can occur, larger than that of any other epileptic syndrome. The most frequently occurring seizure type is tonic seizures, which are often nocturnal (90%); the second most frequent are myoclonic seizures, which often occur when the person is over-tired.
Atonic, atypical absence, tonic, complex partial, focalized and tonic–clonic seizures are also common. Additionally, about half of patients will have status epilepticus, usually the nonconvulsive type, which is characterized by dizziness, apathy, and unresponsiveness. The seizures can cause sudden falling (or spasms in tonic, atonic and myoclonic episodes) and/or loss of balance, which is why patients often wear a helmet to prevent head injury.
In addition to daily multiple seizures of various types, children with LGS frequently have arrested/slowed psycho-motor development and behavior disorders.
The syndrome is also characterized by an (between-seizures) EEG featuring slow spike-wave complexes.
There are various reflex epilepsies, including:
- Photosensitive epilepsy
- Eating epilepsy
- Reading epilepsy
- Hot water epilepsy
- Music induced seizures
Generalised seizures, particularly myoclonic and tonic-clonic, are the most common type of reflex seizures, though other types of seizures may occur.
Ohtahara syndrome is rare and the earliest-appearing age-related epileptic encephalopathy, with seizure onset occurring within the first three months of life, and often in the first ten days. Many, but not all, cases of OS evolve into other seizure disorders, namely West syndrome and Lennox-Gastaut syndrome.
The primary outward manifestation of OS is seizures, usually presenting as tonic seizures (a generalized seizure involving a sudden stiffening of the limbs). Other seizure types that may occur include partial seizures, clusters of infantile spasms, and, rarely, myoclonic seizures. In addition to seizures, children with OS exhibit profound mental and physical retardation.
Clinically, OS is characterized by a "burst suppression" pattern on an EEG. This pattern involves high voltage spike wave discharge followed by little brain wave activity.
It is named for the Japanese neurologist Shunsuke Ohtahara (1930–2013), who identified it in 1976.
This rare epilepsy has a wide age range of presentation (from the first year of life through the early teens). This epilepsy is characterized by absence seizures concurrent with myoclonic jerks, typically occurring several times daily. The genetics of this disorder have not been delineated. Seizures from this disorder often cease within 5 years.
Myoclonic seizures involve brief involuntary muscle twitching, and may become frequent enough to be disabling. Tonic-clonic seizures have two phases: the tonic phase may last a few seconds and involves the muscles tensing, and may lead to the person falling down; the clonic phase involves a convulsion of rapidly alternating muscle tensing and relaxing. Neurological dysfunction includes difficulty coordinating muscle movements (ataxia) and a decline in cognitive ability (dementia).
Reflex seizures may occur in reflex epilepsies only or also in other epilepsy syndromes in combination with other seizure types. They are seizures which are the result of sensory stimulation caused by the environment or own activities of the affected persons. The most common type is photosensitive seizure.
In susceptible people, reflex seizures may be elicited by many stimuli including eating, hot water, intermittent visual stimuli (flickering, stroboscopic light), music, playing games, reading, writing, singing sudden noise, tooth brushing or touch at certain areas of the body.
Early myoclonic encephalopathy (EME) is an epilepsy syndrome where myoclonic seizures develop in the neonatal period. After several months, the seizure pattern may develop to infantile spasms (West syndrome). Various genetic and metabolic disorders are responsible. The seizures are resistant to treatment. The neurology is very abnormal and patients often do not live beyond one year.
In the early stages, it can be difficult to distinguish progressive myoclonic epilepsy from benign idiopathic generalised epilepsies, such as juvenile myoclonic epilepsy. With PME, the initial effectiveness of anticonvulsant treatment diminishes as seizures become more frequent and neurological decline progresses. However, these can also be signs of anticonvulsant intoxication. The myoclonus in PME is usually severe and is the prominent seizure type.
Most generalized epilepsy starts during childhood. While some patients outgrow their epilepsy during adolescence and no longer need medication, in others, the condition remains for life, thereby requiring lifelong medication and monitoring.