Epilepsy is a brain disorder characterized by an enduring predisposition to generate epileptic seizures, the consequences of this condition and the occurrence of at least one seizure. Seizures can be classified as being partial-onset seizures and generalized-onset seizures.
Presentation
The symptoms of epilepsy usually vary on the basis of underlying pathology. Seizure is the only symptom which is present in all types of epilepsy. However, the associated symptoms may differ on the type of seizures.
Impairment or loss of consciousness is usually a feature of complex partial seizures. The level of consciousness is not affected in simple partial seizures. Atonic and tonic seizures often make the patient fall down.
Entire Body System
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Unconsciousness
At 14 years old, she experienced an aggravated seizure, manifesting as unconsciousness, hyperventilation, and urinary incontinence. [ncbi.nlm.nih.gov]
The term "complex" is used by doctors to describe a person who is between being fully alert and unconscious. Absence or petit mal seizures: These are most common in childhood. [emedicinehealth.com]
As patients are often unconscious or unaware during seizures, it's extremely important for the doctor to get an eye-witness description of attacks from another person. [netdoctor.co.uk]
Once the seizure begins, you may remain conscious but your body will begin to twitch and display unconscious actions. You’ll make repetitive, uncontrollable movements such as lip smacking, swallowing, chewing, staring, or hand rubbing. [healthline.com]
Gastrointestinal
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Abdominal Pain
More severe liver injury can cause nausea, vomiting, abdominal pain, fatigue, anorexia, jaundice and/or dark urine. [fda.gov]
Digestive system Seizures can affect the movement of food through the digestive system, causing symptoms such as: abdominal pain nausea and vomiting pauses in breathing indigestion loss of bowel control Epilepsy can have ripple effects on just about every [healthline.com]
The individual may also experience intense fear, abdominal pain or discomfort, or an awareness of increased respiration rate or heartbeat. The form of the onset of a seizure is, in most cases, the same from attack to attack. [britannica.com]
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Fecal Incontinence
Bruno MK reported that the duration of attacks in his clinical criteria was short (less than one minute). 15 No unconsciousness or urinary and fecal incontinence were observed during the attack. [ncbi.nlm.nih.gov]
Cardiovascular
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Cyanosis
In addition to the typical features of PTHS, the girl also had paroxysms of tachypnea followed by cyanosis and recurrent seizures. [ncbi.nlm.nih.gov]
Musculoskeletal
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Muscle Twitch
Symptoms of focal seizures might include: muscle twitching in one part of the body changes to smells, sounds, tastes and sight numbness difficulty talking abnormal behaviour and movements like picking at clothing or lip smacking. [raisingchildren.net.au]
These seizures produce muscle twitches, convulsions and loss of consciousness. People with this type of epilepsy do not remember having a seizure. [faculty.washington.edu]
Convulsions, during which the muscles twitch or jerk, are just one characteristic of seizures. Some seizures cause convulsions, but many do not. [northshore.org]
They proposed a definition of the clinical syndrome as “clonic muscle twitching repeated at fairly short intervals in 1 part of the body for a period of days or weeks.” [medlink.com]
Stronger seizures can cause spasms and uncontrollable muscle twitches, and can last a few seconds to several minutes. During a stronger seizure, some people become confused or lose consciousness. Afterward you may have no memory of it happening. [healthline.com]
Psychiatrical
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Visual Hallucination
Types of auras include: Vision (visual): Visual auras can be simple, such as seeing bright flashes of light, dark spots, or tunnel vision, or they can be complex or experiential, such as blindness, visual hallucinations, illusions, and distorted scenery [verywell.com]
The cortex is the outer layer of the brain, and seizure symptoms can vary from unusual sensations to visual hallucinations, emotional changes, or convulsions. [everydayhealth.com]
hallucinations, ictal blindness, vomiting and post-ictal headache; EEG typically shows interictal occipital spikes attenuated by eye opening an epilepsy syndrome with an age of onset of 3–10 years characterised by multiple seizure types (including atonic [pathways.nice.org.uk]
Mark Walterfang, Raju Yerra, Francesco Gaillard, Terence O’Brien, Ramon Mocellin and Dennis Velakoulis, Complex visual hallucinations and occipital seizures, Acta Neuropsychiatrica, 19, 6, (376-379), (2007). [doi.org]
Urogenital
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Urinary Incontinence
At 14 years old, she experienced an aggravated seizure, manifesting as unconsciousness, hyperventilation, and urinary incontinence. [ncbi.nlm.nih.gov]
The tongue may be bitten during involuntary contraction of the jaw muscles, and urinary incontinence may occur. Usually, the entire generalized tonic-clonic seizure is over in less than five minutes. [britannica.com]
Neurologic
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Seizure
Partial-onset seizures A partial seizure originates in a specific area of the brain. Partial seizures consist of abnormal sensations or movements, and a lapse of consciousness may occur. [britannica.com]
Three categories of reflex seizures encountered clinically include pure reflex epilepsies, reflex seizures that occur in generalized or focal epilepsy syndromes that are also associated with spontaneous seizures, and isolated reflex seizures occurring [doi.org]
Seizures can be classified as being partial-onset seizures and generalized-onset seizures. The symptoms of epilepsy usually vary on the basis of underlying pathology. Seizure is the only symptom which is present in all types of epilepsy. [symptoma.com]
[…] causing seizures nonsyndromic epilepsy Seizure disorder The Sacred Disease Falling sickness Epilepsies Epileptiform Caducus morbus Morbus comitialis Seizure Disorder Intractable epilepsy in childhood Seizure syndrome Seizure prediction Mirgi Idiopathic [wikidata.org]
The median age of onset of all seizures was 10 years, and 8 years for nodding seizures. PWE with nodding seizures presented with more cognitive disabilities. [ncbi.nlm.nih.gov]
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Confusion
On 1-year follow-up, patient and family members did not report episodic confusion or any seizure-like activity. RAS constitute a particular entity of seizures and need careful interpretation and management. [ncbi.nlm.nih.gov]
Epileptic seizures typically last one to two minutes but can be followed by weakness, confusion, or unresponsiveness. [britannica.com]
Unfortunately, a great deal of misunderstanding and confusion about seizures still exists, so it is important that your child's friends and teachers become educated about her condition. [healthychildren.org]
Often people will be confused briefly after a generalized seizure. Partial or focal seizures: Only part of the brain is involved, so only part of the body is affected. [emedicinehealth.com]
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Febrile Seizures
CONCLUSIONS: Our study showed that being female, comorbid autism with febrile seizure and recurrent febrile seizure had an increased association with development of epilepsy. [ncbi.nlm.nih.gov]
Febrile seizures and idiopathic epilepsy: a clinical and genetic study in a Finnish family. Epilepsia. 2006; 47 12 15 Scheffer I E, Berkovic S F. Generalized epilepsy with febrile seizures plus. [doi.org]
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Aura
Here Prince Myshkin describes the onset of a seizure with an ecstatic aura. [charge.org.uk]
The type of aura you have can give clues as to the region of your brain in which your seizure begins. Sometimes, auras occur without any other seizure symptoms. In these cases, the aura is the seizure. [verywell.com]
After experiencing the aura, the individual becomes unresponsive but may examine objects closely or walk around. [britannica.com]
Aura Stage For some types of seizures, an aura happens before a seizure and may alert a person that a seizure may occur. Auras typically begin seconds before the seizure. [uchospitals.edu]
Her habitual seizures were described as sudden behavioral arrest, staring, unresponsiveness, and oral automatisms, with auras of fear and palpitation. [ncbi.nlm.nih.gov]
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Dizziness
These 'peaks' may be associated with side effects such as dizziness, drowsiness and lack of coordination. [doi.org]
Nevertheless, polytherapy often results in a number of unwanted effects, including neurological disturbances (somnolence, ataxia, dizziness), psychiatric and behavioural symptoms, and metabolic alteration (osteoporosis, inducement or inhibition of hepatic [ncbi.nlm.nih.gov]
Workup
Before the diagnosis of epilepsy is made, the following investigations are used to rule out infections or metabolic causes of seizures.
- Blood Chemistry Panel
- Serum urea, creatinine and electrolytes
- Random blood sugar
- Serum calcium and magnesium
- Liver function tests
- Lumbar puncture
Other investigations that will help diagnose epilepsy include the following.
- Electroencephalography: Electroencephalography may help establish and characterize the type of epilepsy by demonstrating abnormal electrical activity in the brain.
- Compuerized Tomography (CT) or Magnetic Resonance Imaging (MRI) scan: CT or MRI brain scanning is often useful in defining or excluding structural causes for seizures e.g. tumors and infections.
- Position Emission Tomography (PET) and Single Photon Emission Computed Tomography (SPECT): PET and SPECT are also used to evaluate certain patients of seizures who do not respond to medical therapy.
EEG
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Epileptiform Activity
It remains unclear whether seizures and epileptiform activity on the EEG are causative or comorbid. It is also uncertain if focal epileptiform EEG abnormalities may be associated with stable cognitive impairment. [ncbi.nlm.nih.gov]
Her EEG at 2 years was reported as showing frequent left central epileptiform activity. At 4 years, the EEG was more abnormal with the background predominantly comprising bilateral delta rhythms most prominent over the right central region. [brain.oxfordjournals.org]
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EEG Suppression
Loparo, Automated Detection of Postictal Generalized EEG Suppression, IEEE Transactions on Biomedical Engineering, 65, 2, (371), (2018). [doi.org]
Kalitzin, Dynamics of convulsive seizure termination and postictal generalized EEG suppression, Brain, 10.1093/brain/aww322, (aww322), (2017). [oadoi.org]
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Periodic Lateralized Epileptiform Discharges
lateralized epileptiform discharges (PLEDs) with slow-wave activity. [ncbi.nlm.nih.gov]
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Multifocal Spikes
Neuroimaging studies were unremarkable and electroencephalograms showed high voltage 200-400uV, 2-2.5 Hz generalized spike-and-waves and polyspikes with alternating frontal predominance, and multifocal spike-and-slow waves. [ncbi.nlm.nih.gov]
Inter-ictal multifocal spikes or sharp and slow waves in nearly all EEGs. Ictal EEG Epilepsia partialis continua is notorious with regard to lack of clinico-EEG correlations; epileptiform abnormalities may or may not be concomitant with the jerks. [epilepsy.com]
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Focal Epileptiform Discharges
The cellular neurophysiologic correlate of an interictal focal epileptiform discharge in single cortical neurons is the paroxysmal depolarization shift (PDS). [emedicine.medscape.com]
Treatment
Immediate care of seizures:
Little can be done for a person having a major seizure. Supportive treatment includes first aid, maintenance of airway, provision of oxygen and administration of intravenous anticonvulsants.
Anti-convulsant drug therapy:
If the cause of epilepsy is treatable promptly, drug therapy is not necessary. Drug therapy is required when the cause is not immediately treatable and and the patient is at a risk of having further seizures. There are various anticonvulsant drugs with different mechanism of actions. They can be divided into the following large groups [6].
- Sodium channels e.g. phenytoin, carbamazepine etc
- GABA-A receptor enhancers e.g. phenobarbital
- T-calcium channel blockers e.g. valproate
- Carbonic anhydrase inhibitors e.g. zonisamide
- Blockers of unique binding sites e.g. gabapentin
Surgical choices
The type of epilepsy surgery depends on the location in the brain causing the seizures. Anterior temporal lobectomy is the most common surgical choice in adults [7]. In children, the surgical choices include corpus callosotomy and hemispherectomy [8] [9].
Prognosis
If epilepsy is properly controlled via medications, the lifespan of the patients is completely normal.
Even without treatment, sudden death in the patients suffering from epilepsy is very uncommon. Those suffering from tonic-clonic seizures may suffer from accidents and traumas. Mortality is also higher in the patients whose seizures are associated with loss of consciousness.
Etiology
The etiology of epilepsy varies with age group.
In neonates, developmental insufficiency or brain injury are the most common causes for the development of epilepsy.
In the infantile age group, the principal congenital malformations, perinatal injury and metabolic disorders are the principal causes of epilepsy.
In children and adolescents, epilepsy usually results from genetic causes.
In adults, in addition to genetic causes, cerebral neoplasms, drugs, alcohol withdrawal, brain trauma, stroke, infection and surgery are the predisposing conditions that lead to the development of epilepsy.
The genetic syndromes that cause seizures include Angelman syndrome, Rett syndrome, Pitt Hopkin’s syndrome, tuberous sclerosis, Prader Willi syndrome and Struge Weber syndrome [1][2].
Epidemiology
The annual incidence of epilepsy in Minnesota was demonstrated by a study to be around a 100 cases per 100,000 persons aged between 0 to 1 years; 40 cases per 100,000 persons aged 38 to 40 years and 140 cases per 100,000 persons aged 79-80 years.
Overall, the total incidence of epilepsy is 3400 per 100,000 men (3.4%) and 2800 per 100,000 women (2.8%) by the age of 75 years [3].
Pathophysiology
Seizures result from a sudden imbalance between the excitatory and inhibitory mechanisms in the brain [4].
Partial seizures are those in which the seizure activity is restricted to one part of the cerebrum; i.e. the focus of increased electrical activity is in one hemisphere.
On the other hand, in generalized seizures, diffuse regions of both the hemispheres are involved simultaneously and sunchronously.
If any seizure remains for 60 minutes, irreversible brain damage occurs. Cell death occurs from excessively increased metabolic demands of the continuously discharging neurons.
Prevention
Since the cause of epilepsy is not exactly known, it is not possible to prevent it. However, head injury being the most important cause, if avoided can prevent the development of epilepsy [10]. Wearing seat belts, following traffic rules and avoiding accidents is helpful in reducing the risk of head trauma.
Epileptics sensitive to alcohol must prevent alcohol intake.
Summary
A seizure or convulsion is a paroxysmal involuntary disturbance of brain function that may be manifested as an impairment or loss of consciousness, abnormal motor activity, behavioral abnormalities, sensory disturbances or autonomic dysfunction.
Epilepsy is defined as a brain disorder that is characterized by recurrent seizures unrelated to fever or to an acute cerebral etiology.
Patient Information
Epilepsy is a group of disorders characterized by seizures in association with loss of consciousness and psychic abnormalities. The patients of epilepsy may belong to any age group. Early diagnosis and proper management of the disease improves the outcome. Treatment may be done through anti-seizure drugs or brain surgery.
References
- Steffenburg U, Hagberg G, Hagberg B. Epilepsy in a representative series of Rett syndrome. Acta paediatrica. Jan 2001;90(1):34-39.
- Whalen S, Heron D, Gaillon T, et al. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Human mutation. Jan 2012;33(1):64-72.
- Hauser WA, Annegers JF, Rocca WA. Descriptive epidemiology of epilepsy: contributions of population-based studies from Rochester, Minnesota. Mayo Clinic proceedings. Jun 1996;71(6):576-586.
- Engelborghs S, D'Hooge R, De Deyn PP. Pathophysiology of epilepsy. Acta neurologica Belgica. Dec 2000;100(4):201-213.
- Tharyan P. Prolactin levels in epilepsy. The Journal of the Association of Physicians of India. Jun 1991;39(6):505-506.
- Goldenberg MM. Overview of drugs used for epilepsy and seizures: etiology, diagnosis, and treatment. P & T : a peer-reviewed journal for formulary management. Jul 2010;35(7):392-415.
- Matsuura M. Indication for anterior temporal lobectomy in patients with temporal lobe epilepsy and psychopathology. Epilepsia. 2000;41 Suppl 9:39-42.
- Gonzalez-Martinez JA, Gupta A, Kotagal P, et al. Hemispherectomy for catastrophic epilepsy in infants. Epilepsia. Sep 2005;46(9):1518-1525.
- Rahimi SY, Park YD, Witcher MR, Lee KH, Marrufo M, Lee MR. Corpus callosotomy for treatment of pediatric epilepsy in the modern era. Pediatric neurosurgery. 2007;43(3):202-208.
- Pitkanen A, Bolkvadze T. Head Trauma and Epilepsy. In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds. Jasper's Basic Mechanisms of the Epilepsies. 4th ed. Bethesda (MD)2012.