What is generalized epilepsy

We usually don’t hear about epilepsy as often as, say, heart attacks and strokes. However, almost each of us, one way or another, is familiar with this disease, if not personally, then from the stories of others whose relatives or friends suffer from this disease. And this is no coincidence, because epilepsy is observed in almost 5% of the population of our planet, and in children this disease is registered three times more often than in adults. And the general term “epilepsy,” according to the conclusion of modern practicing neurologists, combines more than fifty diseases that differ in clinical manifestations and treatment, including the most common generalized epilepsy.

What is generalized epilepsy

Generalized epilepsy is a chronic pathology of the brain, which is characterized by the formation (in both hemispheres) of neural impulses of excessive intensity. During the resulting attacks (which become repeated), many of the patient’s organic functions are temporarily disrupted:

• motor
• vegetative
• sensitive
• mental

Generalized epilepsy today means all epileptic forms based on the stereotypical occurrence of epileptic seizures. The latter consist of absence seizures (short-term, literally for a few seconds, switching off consciousness), generalized myoclonic (associated with involuntary muscle tension) and tonic-clonic (associated with changes in muscle tension and intermittent muscle contractions) paroxysms.

What types of generalized epilepsy are known?

Depending on the nature of the origin, generalized epilepsy is usually divided into:

• idiopathic - genetically transmitted and, mainly, occurring in childhood or adolescence (or with possible manifestation in adulthood), characterized by the absence of pathologies of the nervous system and, in particular, structural changes in the brain (except for changes recorded using EEG and MRI);
• symptomatic – arising as a result of traumatic brain injuries (in most cases during childbirth), or as a result of extensive organic brain damage after neurointoxication, infectious diseases, as well as against the background of hereditary pathologies, neoplasms, and some dysmetabolic conditions (including intrauterine fetal hypoxia);
• cryptogenic – with unknown etiology.

Depending on the presence of seizures in attacks, generalized epilepsy is divided into:

• non-convulsive (characterized by the presence of absence seizures in attacks);
• convulsive (characterized by tonic-clonic phases of the attack).

Rolandic

Benign childhood partial epilepsy with central temporal peaks (rolandic epilepsy).

Rolandic epilepsy (RE) is an idiopathic partial epilepsy of childhood, characterized by predominantly short hemifacial motor nocturnal seizures, often preceded by somatosensory aura and typical EEG changes. The onset of RE varies in the age range from 2 to 14 years. In 85% of cases, attacks begin between the ages of 4 and 10 years, with a maximum at 9 years. Simple partial (motor, sensory, autonomic), complex partial (motor) and secondary generalized seizures are observed. The most typical are simple partial motor and/or sensory paroxysms. The attack begins with a somatosensory aura: a tingling sensation, numbness on one side in the pharynx, tongue, and gums. Then motor phenomena appear: unilateral tonic, clonic or tonic-clonic convulsions of the muscles of the face, lips, tongue, pharynx, larynx; pharyngo-oral attacks, often combined with anarthria and hypersalivation. At the same time, in their sleep, patients make peculiar throat sounds such as “gurgling”, “grunting”, “gargling”. In 20% of patients, seizures may spread from the facial muscles to the homolateral arm (brachiofacial seizures) and involve the leg in approximately 8% of cases. As the disease progresses, attacks may change direction. Secondary generalized seizures are observed in 20-25% of patients with EC. The duration of attacks with RE is short: from a few seconds to 2-3 minutes. The frequency is usually low - on average 2-4 times a year. In the first months after the onset of the disease, attacks may be more frequent, but over time they occur less and less often, even without treatment. RE paroxysms are “rigidly” connected to the sleep-wake rhythm. The most typical attacks are at night, occurring mainly when falling asleep and waking up. Only 15-20% of patients experience attacks both during sleep and while awake. On the EEG in the interictal period, characteristic “Rolandic” peak-wave complexes are detected with high frequency while the basic activity is necessarily preserved. These complexes are slow, diphasic, high-amplitude peaks or sharp waves (150-300 μV), often followed by slow waves, with a total duration of about 30 ms. These complexes resemble the QRS waves of an ECG. Rolandic complexes are usually localized in the central and temporal region; can be observed both unilaterally (usually contralateral to hemifacial seizures) and bilaterally independently. Typical is the instability of EEG patterns, their variability from one recording to another. Treatment. The basic drug is valproate. The average dosage is 20-40 mg/kg/day in 3 divided doses. If ineffective, switch to carbamazepine - 10-20 mg/kg/day in 2-3 doses. Polytherapy is unacceptable! Complete therapeutic remission is achieved in almost 100% of cases. After 14 years of age, attacks disappear (with treatment or spontaneously) in 93% of patients, and after 16 years - in 98%. Given the absolutely favorable prognosis, some authors suggest not prescribing treatment if a diagnosis of EC is established. This point of view is debatable. We recommend the use of AEDs for patients suffering from endometrial cancer. If the doctor has chosen observation tactics without prescribing AEDs, then all the following conditions must be met:

• absolute confidence of the doctor (better than 2 expert epileptologists) in the diagnosis of EC,
• clinical and EEG manifestations of RE are typical,
• both parents are aware of the diagnosis and agree not to give the child AEDs,
• the patient himself agrees not to undergo treatment, knowing that he may experience epileptic seizures for several years.

What are the symptoms of generalized epilepsy

The symptoms of generalized epilepsy usually depend on its form.

IdiopathicSymptomatic

Age of first manifestation Childhood and adolescence (mainly up to 21 years). Any age period, but for congenital and hereditary pathologies manifestations in early childhood are typical.

Neurological status Symptoms are scattered, occasionally focal. Depends on the underlying disease, which determines general cerebral and focal symptoms.

Nature of attacks Epileptic paroxysms of a primary generalized nature: with myoclonic convulsions (short-term twitching of the limbs), absence seizures (with lack of attention), generalized tonic-clonic convulsions (muscle tension, followed by intermittent muscle contractions against the background of a lack of consciousness, which often ends in involuntary urination and muscle pain). relaxation).Generalized epileptic seizures (against the background of clinical manifestations of the underlying disease). They are characterized by general muscle tension with a short-term cessation of breathing, followed by convulsions that can last from 10 seconds to 20 minutes.

Cognitive manifestations Mental abilities are normal, although sometimes they may temporarily decrease slightly (in approximately 5-8% of patients). There is a decrease in intellectual abilities; mental retardation and cerebral palsy may develop in children.

Definition, classification of epilepsy

Definition. Epilepsy is a chronic disease of the brain characterized by repeated unprovoked attacks of disturbances in motor, sensory, autonomic, mental or mental functions resulting from excessive neural discharges. The presented definition contains two important provisions. Firstly, epilepsy does not include single seizures, regardless of their clinical manifestations. Only repeated seizures are the basis for a diagnosis of epilepsy. Secondly, epilepsy includes spontaneous, unprovoked seizures (with the exception of reflex forms). By definition, febrile seizures, as well as seizures that occur in acute diseases of the brain (for example, encephalitis, subdural hematoma, acute cerebrovascular accident, etc.) are not epilepsy. Classification. The manifestations of epilepsy are extremely diverse, which from the very beginning of studying the disease made it difficult to create a unified classification. The modern classification of epileptic seizures was adopted by the International League Against Epilepsy in 1981 in Kyoto (Japan). Unlike previous classifications, it takes into account both clinical and neurophysiological (EEG) criteria for most types of epileptic seizures (Table 1). The classification divides all types of epileptic seizures into partial (focal, focal, local, localization-related), generalized and unclassified. Partial seizures are diagnosed when, at the onset of paroxysm, there are clear clinical and electrophysiological criteria for the involvement of certain brain structures. For example, clonic convulsions of one half of the face and arm (faciobrachial seizures) usually indicate the presence of an epileptic focus in the middle-lower parts of the anterior central gyrus; olfactory hallucinations – in the area of ​​the hook; photopsia – in the occipital lobe cortex, etc. If the attack begins as a partial attack, and then involves the entire musculature of the trunk and limbs and signs of involvement of both hemispheres on the EEG, then it should be classified as focal with secondary generalization. The classification clarifies the concept of simple and complex partial seizures. Previously, complex partial seizures were defined as paroxysms with a change in consciousness, and simple ones - without change. According to the Kyoto classification, complex partial seizures should be understood as paroxysms not with a change, but with a complete shutdown of consciousness. Consequently, according to the modern classification, all attacks that occur with phenomena of depersonalization, dream states, cognitive disorders, etc., are not classified as complex, but as simple partial, since the patient’s consciousness during these paroxysms is changed, but not turned off, and the memory of the attacks is preserved . Also, the 1981 classification stipulates that one patient may have several different types of seizures. For example, an attack, starting as a simple partial, can transform into a complex partial, and then into a secondary generalized one. The term “polymorphic seizures” has been removed from the classification, which does not carry any information and is not recommended for use. Thus, the Kyoto classification is at this stage the most complete systematization of epileptic seizures. With the accumulation of clinical experience, the introduction of video-EEG monitoring into practice, the development of neuro-radiological diagnostic methods (CT, MRI, PET), molecular genetics and other sciences, it became obvious that there are a number of special forms of epilepsy, which are characterized by their own clinic (typical types of attacks), course and prognosis. Some of these forms have been known for a long time, such as West syndrome, Lennox-Gastaut syndrome, and Rolandic epilepsy. Others - benign familial neonatal seizures, severe myoclonic (in infancy), juvenile absence epilepsy - have been identified only in recent years. These forms of epilepsy, or according to the International Classification, epileptic syndromes, as a rule, are manifested not by any one type of seizure, but by a combination of them. Epileptic syndromes are defined as separate, independent forms of epilepsy, characterized by a limited age of onset of seizures, the presence of a special type of seizures, specific changes in the EEG (characteristic of a given syndrome), patterns of course and prognosis. For example, one type of seizures - absence seizures - can be part of a number of epileptic syndromes: childhood and adolescent absence epilepsy, juvenile myoclonic epilepsy, with myoclonic absence seizures and others, and the course and prognosis for all of these syndromes are different. A fundamentally new step in the development of epileptology was the creation of a modern classification of “epilepsies, epileptic syndromes and diseases associated with seizures.” This classification was adopted by the International League Against Epilepsy in October 1989 in New Delhi and is currently generally accepted by epileptologists around the world (Table 2). The classification of epileptic syndromes is based on the following principles: 1. Localization principle:

• localization-related (focal, local, partial) forms of epilepsy;
• generalized forms;
• forms that have features of both partial and generalized.

2. Principle of etiology:

• symptomatic,
• cryptogenic,
• idiopathic.

3. Age of onset of attacks:

• newborn shapes,
• infant,
• children's,
• youthful,
• adults.

4. The main type of attacks that determines the clinical picture of the syndrome:

• absence seizures,
• myoclonic absence seizures,
• infantile spasms, etc.

5. Features of the course and forecast:

• benign,
• severe (malignant).

The principles of localization and etiology in classification require clarification. The classification is based on classical ideas about focal and generalized forms of epilepsy. Localization-related forms are determined if the nature of the paroxysms, EEG data and neuroradiological examination confirm the local origin of the attacks. This applies not only to forms with a clearly identified structural defect of the brain (temporal lobe epilepsy), but also to syndromes in which the nature of the seizures and EEG indicate a local onset, but changes on CT are usually absent (rolandic epilepsy, benign occipital epilepsy). It is also possible that there are multifocal forms of epilepsy, in which seizures originate from several foci within one or both hemispheres. In generalized forms of epilepsy, seizures must be generalized from the very beginning, which is confirmed by EEG data (bilateral synchronous spread to both hemispheres). The pathogenesis of generalized forms of epilepsy is still not clear enough. A corticothalamic hypothesis for the occurrence of primary generalization is proposed. In cases where the nature of the attacks and examination data do not allow us to confidently state the local or primary generalized onset of paroxysms, these epileptic syndromes are defined as not amenable to clear classification, that is, having signs of both locality and generalization. The classification divides all epileptic syndromes into symptomatic, idiopathic and cryptogenic. Symptomatic forms mean epileptic syndromes with a known etiology and verified morphological disorders (tumors, scars, gliosis, cysts, dysgenesis, etc.). In idiopathic forms, there are no diseases that could be the cause of epilepsy, and epilepsy is, as it were, an independent disease. Currently, the genetic determination of idiopathic forms of epilepsy has been established. The term “cryptogenic” (hidden) refers to those syndromes whose cause remains hidden and unclear. These syndromes do not meet the criteria for idiopathic forms, but there is no evidence of their symptomatic nature. For example, in the case of a combination of epilepsy with hemiparesis or oligophrenia, the symptomatic nature of the disease is assumed, but CT and MRI studies do not visualize changes in the brain. This case is classified as cryptogenic. It is obvious that with the improvement of the technical capabilities of neuroimaging (for example, PET), most cryptogenic forms will be transferred to the category of symptomatic. Symptoms. The semiology and clinic of various epileptic seizures are described in detail in many manuals on epilepsy. At the same time, the diagnosis of certain forms of epilepsy (epileptic syndromes) has received insufficient attention in the literature. Let us dwell on the diagnostic criteria and principles of treatment of the main epileptic syndromes of childhood and adolescence.

What is the diagnosis of generalized epilepsy?

Generalized epilepsy is diagnosed by a doctor based on:

• careful collection of anamnesis (including information about the presence of the disease in the family, the age of the patient at which the first attack was observed, the duration and nature of the attack, the presence of seizures)
• laboratory testing of blood and urine
• echoencephalography (including EEG monitoring)

Additionally, to clarify the diagnosis, you may need:

• CT
• NMRI
• biochemical examination of blood and cerebrospinal fluid
• consultations with other specialists (neurosurgeon, infectious disease specialist, pediatric ophthalmologist)

Causes of idiopathic epilepsy

It is very difficult to identify an objective etiological factor contributing to the occurrence and development of this disease. In a number of experimental studies, it was found that one of the reasons is a genetic factor, which determines the hereditary nature of the pathology. However, at the same time it was revealed that different forms of the disease correspond to mutations in different parts of the human genome.

Factors that can trigger an epileptic attack:

• Excessive physical or mental stress;
• Sudden interruption of sleep;
• Alcohol consumption;
• Mental and emotional stress.

What is the treatment for generalized epilepsy

Effective treatment of this type of epilepsy directly depends on the form of the disease, as well as the nature of the attacks. And if it does not always allow the patient to forget about his illness, ideally it should be aimed at maximizing the reduction in the frequency and severity of attacks.

Anticonvulsant therapy for generalized epilepsy is usually recommended to begin no earlier than the second attack and only if an accurate diagnosis has been established. It is usually started by prescribing a base drug specifically for this epiform (for example, valproate, etc.), starting with a dose that is approximately a quarter of the standard therapeutic dose. Over the next two to three weeks (with the indispensable condition of good tolerability and the absence of a therapeutic effect), the starting dose is increased by another half, further bringing it to the average therapeutic dose. Such monotherapy is usually quite effective in the case of idiopathic generalized epilepsy.

If no positive dynamics are observed as a result of treatment, or the condition is worsened by various side effects, the doctor may replace the drug with another one. Therapy can be considered successful when complete remission occurs (without attacks) within three years from the start of treatment, after which a dosage reduction is possible.

Generalized epilepsy today is not a death sentence for the patient, because a timely correct diagnosis and effective therapy allows the patient to significantly improve the quality of his life already in the first stages of treatment. Are you or your loved ones concerned about this disease? Experienced medical specialists are always ready to provide you with the necessary assistance and give you the opportunity to look into the future with confidence!

Pediatric absence epilepsy.

Absence seizures are a type of generalized nonconvulsive seizures, characterized by a high frequency and short duration of paroxysms with loss of consciousness and the presence of a specific pattern on the EEG - generalized peak-wave activity with a frequency of 3 Hz. Absence seizures are one of the most common types of epileptic seizures in children and adolescents. The onset of absence seizures in childhood absence epilepsy (CAE) is observed in the age range from 2 to 9 years, averaging 5.3 ± 0.3 years. The peak age of manifestation is 4-6 years, with a predominance of girls by gender. Clinically, absence seizures are characterized by a sudden short cessation (or significant decrease in the level) of consciousness with absence or minimal motor phenomena. An aura, as well as post-ictal confusion, are not typical. The duration of absence seizures ranges from 2-3 to 30 seconds, averaging 5-15 seconds. A characteristic feature of absence seizures is their high frequency, reaching tens and hundreds of attacks per day. It is important to divide absence seizures into simple and complex ones. Simple absence seizures are characterized by the cessation of all activity, “freezing”, “freezing” of patients, a fixed “absent” gaze, and a confused, hypomimic facial expression. Simple absence seizures account for only 20% of the clinical picture of DAE. DAE is more characterized by complex absence seizures that occur with a minimal motor component. The following types of complex absences are distinguished: with myoclonic, tonic, atonic, vegetative components, as well as with automatisms and focal phenomena. The most common absence seizures are those with myoclonic and tonic components. Absence seizures with a myoclonic component are observed in 40% of patients with DAE. Manifested by: myoclonus of the eyelids; perioral myoclonus (rhythmic stretching of the lips, like a “goldfish”); perinasal myoclonus (rhythmic twitching of the wings of the nose). During an attack, a number of patients experience a single shudder or several short weak twitches of the muscles of the shoulder girdle and/or arms. Absence seizures with a tonic component are most typical for DAE, observed in 50% of patients. They are manifested by deviation of the head, and sometimes the body, backwards (retropulsive absence seizures), tonic abduction of the eyeballs upward or to the side. Sometimes during an attack there is a slight tonic tension (usually asymmetrical) in the muscles of the upper extremities. Absence seizures with an atonic component are not typical for DAE and are observed only in isolated cases, mainly in atypical forms. They manifest themselves as a sudden loss of muscle tone in the muscles of the arms (loss of objects), neck (passive nod), and legs (atonic-astatic attacks). Atonic absence seizures are more often referred to as atypical absence seizures (peak-wave complex frequency less than 2.5 Hz) within Lennox-Gastaut syndrome. Absence seizures with a vegetative component are observed, on average, in 5% of patients with DAE. They manifest themselves as urinary incontinence during an attack, mydriasis, discoloration of the skin of the face and neck with the appearance of an urticarial rash on the skin of these areas. Absences with a focal component are found in 15% of patients and significantly predominate in patients with tonic absences. During an attack, mild unilateral tension in the muscles of the arm or face appears, sometimes with isolated myoclonic twitches; turning your head and eyes to the side. It should be remembered that the appearance of pronounced focal phenomena during attacks is alarming regarding the presence of partial paroxysms in patients. Automatisms in the structure of absence seizures are observed in 35% of patients suffering from DAE. The most common automatisms that occur are gestures, pharyngo-oral and speech. The status of absence seizures in DAE is noted with a frequency of about 10%. This condition is manifested by a sharp increase in absence seizures, following one after another directly or with a very short interval. Amymia, drooling, and motor retardation (stupor) are observed. The duration of the status ranges from several hours to several days. Generalized convulsive seizures (GSE) are found in 1/3 of patients with DAE. Several months or years pass from the debut of absence seizures to the joining of SHGs. In most cases, SHGs join 1-3 years after the onset of the disease (65% in the group of patients with SHGs), less often - in the range of 4-13 years (35%). Rare generalized tonic-clonic convulsive paroxysms predominate. Factors that provoke an increase in absence seizures include the following: hyperventilation; sleep deprivation; photostimulation; menstruation; intense mental activity or, conversely, a relaxed, passive state. Hyperventilation is the main trigger for absence seizures. Carrying out 3-minute hyperventilation in untreated patients with DAE causes absence seizures in almost 100% of cases; and in patients receiving AEDs, it serves as one of the criteria for the effectiveness of drug therapy. The frequency of detection of epileptic activity in the interictal period with DAE is high and amounts to 75-85%. The main background recording activity is preserved. The most typical EEG pattern is bursts of generalized spike-wave activity. The frequency of peak-wave complexes varies from 2.5 to 4-5 per second. (usually 3 Hz – typical absence seizures). Treatment. Complete therapeutic remission in DAE is achieved in 70-80% of cases and a significant reduction in attacks in the remaining patients. Treatment should always begin with valproic acid preparations (Depakine, Convulex, Apilepsin). Average dosages are 30-50 mg/kg/day Depakine Enterik in 3-4 doses or chrono in 2 doses. Suxilep has also been shown to be highly effective in relieving absence seizures. The average dosage of the drug is 15 mg/kg/day in 2-3 doses. A significant negative aspect of suxilep therapy is the complete lack of effect of the drug on GSP. If absence seizures are resistant to monotherapy with valproate and succinimides, a combination of valproate and suxilep, or valproate and lamotrigine (Lamictal) is prescribed. The average daily dose of Lamictal when combined with valproate is 0.2-5.0 mg/kg/day in 2 divided doses. The use of carbamazepine (finlepsin, tegretol, timonil) is strictly contraindicated in all forms of absence epilepsy due to the high likelihood of increased frequency of attacks.