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Epilepsy
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.

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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

  • 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]

    During a seizure, a person may: Fall down and start shaking Become unconscious or confused Usually after a few minutes, the nerve cells start to behave normally and the person returns to normal. [msdmanuals.com]

Gastrointestinal

  • Abdominal Pain

    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]

    More severe liver injury can cause nausea, vomiting, abdominal pain, fatigue, anorexia, jaundice and/or dark urine. [fda.gov]

    irritability, falls, sleepiness, nausea, vomiting, headache, weight gain, abdominal pain, and problems walking Phenobarbital Focal-onset seizures Generalized-onset tonic-clonic seizures Neonatal seizures Status epilepticus Drowsiness, abnormal eye movements [msdmanuals.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]

  • 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]

    Urinary and fecal incontinence, tongue biting, and frothing at the mouth sometimes occur. Seizures usually last 1 to 2 minutes. There is no aura. [msdmanuals.com]

Jaw & Teeth

  • Dysgeusia

    Dysfunction Bilateral tonic posture Frontal lobe (supplementary motor cortex) Simple movements (eg, limb twitching, jacksonian march) Contralateral frontal lobe Head and eye deviation with posturing Supplementary motor cortex Abnormal taste sensation (dysgeusia [msdmanuals.com]

Cardiovascular

  • 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]

Skin

  • Flushing

    Focal-onset nonmotor seizures may be further classified based on the earliest prominent feature: Autonomic dysfunction (autonomic effects such as gastrointestinal (GI) sensations, a sense of heat or cold, flushing, sexual arousal, piloerection, and palpitations [msdmanuals.com]

Musculoskeletal

  • 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]

    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]

    Convulsions, during which the muscles twitch or jerk, are just one characteristic of seizures. Some seizures cause convulsions, but many do not. [northshore.org]

    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

  • 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]

    Anteromedial temporal lobe Chewing movements, salivation, speech arrest Amygdala, opercular region Complex behavioral automatisms Temporal lobe Unusual behavior suggesting a psychiatric cause or sleep disorder Frontal lobe Visual hallucinations (formed [msdmanuals.com]

Neurologic

  • 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]

    […] 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]

    PURPOSE: Exogenous estrogens might lead to seizure worsening in women with epilepsy (WWE) by lowering the seizure threshold and inducing glucuronidation in women taking lamotrigine. [ncbi.nlm.nih.gov]

  • 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]

    During a seizure, a person may: Fall down and start shaking Become unconscious or confused Usually after a few minutes, the nerve cells start to behave normally and the person returns to normal. [msdmanuals.com]

  • Aura

    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]

    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]

    Here Prince Myshkin describes the onset of a seizure with an ecstatic aura. [charge.org.uk]

    After experiencing the aura, the individual becomes unresponsive but may examine objects closely or walk around. [britannica.com]

    Other possible auras include hallucinations of sounds, voices, people, smells, and tastes. Not all people who experience temporal lobe seizures experience auras. Sometimes people do not remember experiencing an aura. [healthline.com]

  • Dizziness

    These 'peaks' may be associated with side effects such as dizziness, drowsiness and lack of coordination. [dx.doi.org]

    dizziness, insomnia, fatigue, loss of coordination, double vision, tremor, abnormal menstrual periods, and rash Levetiracetam Focal-onset seizures Juvenile myoclonic epilepsy Myoclonic seizures Generalized-onset seizures Dizziness, weakness, fatigue [msdmanuals.com]

  • 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 Treatment of the Child with a First Unprovoked Seizure (AAP Practice Guideline Endorsement) Febrile Seizures: Guideline for the Neurodiagnostic Evaluation of the Child With a Simple Febrile Seizure (AAP Clinical Practice Guideline) The [healthychildren.org]

Urogenital

  • 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]

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

  • 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]

    activity – A-II-1 38 yrs, 6 mths 10 mths 14 yrs GTCS, FS Nil Normal – 2 yrs: L central epileptiform 4 yrs: diffuse slowing, more marked over R central region 5 yrs: bilateral parietal epileptiform 7 yrs: bilateral central and parietal epileptiform – [brain.oxfordjournals.org]

  • Periodic Lateralized Epileptiform Discharges

    lateralized epileptiform discharges (PLEDs) with slow-wave activity. [ncbi.nlm.nih.gov]

  • Abnormal Spikes

    Its principal features are: (a) motor partial seizures, always well localised; (b) often late appearance of myoclonus in the same site where somatomotor seizures occur; (c) an EEG with normal background activity and a focal paroxysmal abnormality (spikes [medlink.com]

    EEG may detect epileptiform abnormalities (spikes, sharp waves, spike and slow-wave complexes, polyspike and slow-wave complexes). [msdmanuals.com]

    If you have epilepsy, the EEG may show abnormal spikes or waves in your brain's electrical activity patterns. Different types of epilepsy cause different patterns. But an EEG is limited in its ability to diagnose epilepsy. [northshore.org]

  • Spike-and-Slow-Waves

    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]

    The EEG background activity shows asymmetric and slow diffuse delta waves, with numerous ictal and interictal discharges that are not strictly limited to the Rolandic area. [medlink.com]

    EEG may detect epileptiform abnormalities (spikes, sharp waves, spike and slow-wave complexes, polyspike and slow-wave complexes). [msdmanuals.com]

  • 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]

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

  1. Steffenburg U, Hagberg G, Hagberg B. Epilepsy in a representative series of Rett syndrome. Acta paediatrica. Jan 2001;90(1):34-39.
  2. 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.
  3. 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.
  4. Engelborghs S, D'Hooge R, De Deyn PP. Pathophysiology of epilepsy. Acta neurologica Belgica. Dec 2000;100(4):201-213.
  5. Tharyan P. Prolactin levels in epilepsy. The Journal of the Association of Physicians of India. Jun 1991;39(6):505-506.
  6. 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.
  7. Matsuura M. Indication for anterior temporal lobectomy in patients with temporal lobe epilepsy and psychopathology. Epilepsia. 2000;41 Suppl 9:39-42.
  8. Gonzalez-Martinez JA, Gupta A, Kotagal P, et al. Hemispherectomy for catastrophic epilepsy in infants. Epilepsia. Sep 2005;46(9):1518-1525.
  9. 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.
  10. 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.
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