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$Unique_ID{BRK03718}
$Pretitle{}
$Title{Epilepsy}
$Subject{Epilepsy Seizures Convulsions Grand Mal Epilepsy (Major Epilepsy or
Status Epilepticus) Jacksonian Epilepsy (Focal Epilepsy) Myoclonic Progressive
Familial Epilepsy (Unverricht Syndrome, Lundborg-Unverricht Disease, Lafora
Disease or Unverricht-Lundborg-Laf Disease) Petit Mal Epilepsy (Minor
Epilepsy, Pyknoepilepsy, Akinetic Seizure or Myoclonic Seizure) Myoclonic
Astatic Petit Mal Epilepsy (Lennox-Gastaut Syndrome; Petit Mal Variant)
Febrile Seizures Psychomotor Epilepsy (Temporal Lobe Epilepsy, Psychomotor
Equivalent, Psychomotor Convulsion and Epilepsia Procursiva or Abdominal
Epilepsy) Wilson's Disease Kok Disease (Hyperexplexia) Myoclonus Narcolepsy}
$Volume{}
$Log{}

Copyright (C) 1985, 1989, 1990, 1991, 1992 1992 National Organization for
Rare Disorders, Inc.

41:
Epilepsy

** IMPORTANT **
It is possible that the main title of the article (Epilepsy) is not the
name that you expected.  Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

     Seizures
     Convulsions

Disorder Subdivisions:

Grand Mal Epilepsy (Major Epilepsy or Status Epilepticus)

Jacksonian Epilepsy (Focal Epilepsy)

Myoclonic Progressive Familial Epilepsy (Unverricht Syndrome,
Lundborg-Unverricht Disease, Lafora Disease or Unverricht-Lundborg-Laf
Disease)

Petit Mal Epilepsy (Minor Epilepsy, Pyknoepilepsy, Akinetic Seizure or
Myoclonic Seizure)

Myoclonic Astatic Petit Mal Epilepsy (Lennox-Gastaut Syndrome; Petit Mal
Variant)

Febrile Seizures

Psychomotor Epilepsy (Temporal Lobe Epilepsy, Psychomotor Equivalent,
Psychomotor Convulsion and Epilepsia Procursiva or Abdominal Epilepsy)

Information on the following diseases can be found in the Related
Disorders section of this report:

     Wilson's Disease
     Kok Disease (Hyperexplexia)
     Myoclonus
     Narcolepsy

General Discussion

** REMINDER **
The Information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Epilepsy is a group of disorders of the central nervous system
characterized by repeated convulsive (paroxysomal) electrical disturbances in
the brain.  The major symptoms may include loss of consciousness,
convulsions, spasms, sensory confusion and disturbances in the nerves that
control involuntary body functions (autonomic nervous system).  Episodes of
these symptoms are frequently preceded by an "aura."   An aura is described
as a feeling of uneasiness or sensory discomfort that precedes the onset of a
seizure.

Epilepsy may take several different forms including:  Grand Mal Epilepsy
(Major Epilepsy, Status Epilepticus); Jacksonian Epilepsy (Focal Epilepsy);
Myoclonic Progressive Familial Epilepsy (Unverricht Syndrome, Lundborg-
Unverricht Disease, Lafora Disease, Unverricht-Lundborg-Laf Disease); Petit
Mal Epilepsy (Minor Epilepsy, Pyknoepilepsy, Akinetic Seizure, Myoclonic
seizure); Myoclonic Astatic Petit Mal Epilepsy (Lennox-Gastaut Syndrome,
Petit Mal Variant); Febrile Seizures; and Psychomotor Epilepsy (Temporal Lobe
Epilepsy, Psychomotor Equivalent, Psychomotor Convulsion with Epilepsia
Procursiva, Abdominal Epilepsy).

Symptoms

Epilepsy is a group of disorders characterized by electrical discharges in
the brain.  There are no established factors that bring on an epileptic
seizure that are common to all patients.  However, visual phenomena such as
flickering lights or sunbursts, are frequently cited by people with Epilepsy
as preceding an attack.  In certain patients the likelihood of having a
seizure increases with stress, fatigue, insufficient food intake and/or the
failure to take prescribed medications.

Epilepsy may be subdivided according to the type of seizures; namely,
general and partial seizures.  There are further subdivisions within these
categories.

GENERALIZED SEIZURES.  People with Epilepsy who have generalized seizures
typically loose consciousness when the seizure occurs.  During a generalized
seizure electrical discharges occur in both sides (hemispheres) of the brain
at the same time.  These discharges may be observed by a physician on an
electroencephalograph (EEG).  An electroencephalography is a diagnostic test
that produces a chart of brain wave activity.

Shortly before a seizure, people with Epilepsy may have a variety of
symptoms and sensations.  These may include abdominal and chest discomfort,
nausea, dizziness, heart palpitations, headache, impaired speech (aphasia),
shortness of breath (dyspnea), tightening in the throat and/or numbness in
the hands, lips or tongue.  Some patients may experience visual disturbances
or hallucinations, or find themselves in a "dreamlike" state.   The sense of
smell and hearing may also be distorted.  Early symptoms (prodromal signs)
may precede the seizure attack by hours or weeks and may include irritability
and odd mannerisms (i.e., smacking the lips repeatedly).

Grand Mal (tonic-clonic) Epileptic seizures typically occur after sudden
electrical disruptions in both sides of the brain.  Grand Mal seizures may
occur repeatedly or only once.  Status Epilepticus is a severe form of a
grand mal seizure.  In this form a series of convulsions continue to take
place while the patient is unconscious.   Status Epilepticus is life-
threatening and requires immediate hospitalization.

There are 3 stages to Grand Mal or tonic-clonic seizures.  In the first
stage, which may last about 30 seconds, the person loses consciousness and
may fall down.  Spasms of the muscles in the voice box (larynx) may cause the
person to scream or cry loudly and contractions of major muscles may cause
muscle rigidity or stiffness (tonic contraction).

The second stage of Grand Mal seizures may last for several minutes.
Violent spasms of muscles may cause the face, head, and/or arms and legs to
jerk wildly (clonic spasms).  The teeth may be gnashed together and the eyes
may roll wildly.  Breathing can become shallow and perhaps stop momentarily.
These symptoms may be accompanied by a discharge of saliva from the mouth, a
bluish coloration of the skin (cyanosis), and a loss of bladder and/or bowel
control.

In the third or postictal stage, consciousness returns.  Recovery may
take seconds to hours and is often followed by an extended period of
confusion, drowsiness, fatigue and/or excitement.

The onset of Petit Mal epileptic seizures usually occurs between the ages
of 4 and 12.  These seizures rarely occur after the age of 20.  Petit Mal
seizures are short in duration and may occur often.  These seizures are
characterized by the loss of consciousness, eye fluttering and the absence of
movement (motor activity).  Symptoms may be confused with a behavioral
disorder or "daydreaming," and this may lead to a delay in the diagnosis of
Petit Mal Epilepsy.

Epileptic seizures may also occur during infancy.  Generalized infantile
seizures are characterized by "jackknife" muscle spasms ("salaam" seizures).
During these seizures the child's head and torso curve forward as the knees
are drawn up toward the chest in a characteristic posture.  Infantile
seizures may occur in children 3 months to 2 years old.  The muscle spasms
may last for only a few seconds but typically occur repeatedly throughout the
day.

Myoclonic (bilateral massive epileptic) epileptic seizures are sudden,
brief muscle spasms of the arms and legs or the entire body.  Myoclonic jerks
may recur rapidly or may be limited to one episode only.  (For more
information on this disorder, choose "Myoclonus" as your search term in the
Rare Disease Database.)

PARTIAL SEIZURES.  Simple partial epileptic seizures are characterized by
symptoms that are related to the specific motor area of the brain (cerebral
cortex) that is involved.  Partial seizures are typically brief and there is
no loss of consciousness.

Jacksonian (Rolandic) epileptic seizures begin with twitching in a finger
or toe.  The twitching may then extend to adjoining muscles.  Symptoms of
partial epileptic seizures typically occur on one side of the body and the
person does not lose consciousness.  Partial Epileptic Seizures with mixed
symptoms (Complex Partial Epileptic Seizures, Temporal Lobe or Psychomotor
Seizures) may be characterized by unprovoked aggressive behavior and other
unusual behaviors.  There may be an impairment of consciousness.  The
electrical "storm" or discharges that characterize this type of epileptic
seizure usually occurs in the lateral portions of the brain (temporal lobes
of the cerebrum).

Causes

The exact cause of Epilepsy is unknown.  Hereditary factors have been
suggested as a possible cause in Essential Epilepsy.  Some types of Epilepsy
occur as a symptom of other disorders, while others are thought to be caused
by head injuries.  In some families there may be a genetic predisposition to
epilepsy, but scientists do not understand the hereditary factors that may
make a person vulnerable to getting seizures.

The most common causes of recurring seizures in infants include:  genetic
inborn errors of metabolism; other metabolic disorders; developmental brain
defects; injuries occurring a few months before birth or a few weeks after
birth (perinatal); and/or a severe lack of oxygen (hypoxia).  In children the
typical causes of new-onset epileptic seizures can include:  inflammation of
the membranes that surround the brain and the spinal cord (meningitis);
inflammation of the brain (encephalitis); brain abscesses and/or tumors;
exposure to poisons or toxins; diseases that affect the blood vessel system
(vascular diseases); degenerative diseases of the brain; and/or head trauma.

Epileptic seizures that occur in infants or children as a result of an
abnormally high fever (Febrile Seizures) generally do not recur.  In adults
the beginning of epileptic seizures can sometimes be associated with a brain
tumor, trauma to the head, stroke, cerebrovascular disease and/or
degenerative brain disease.  However, in many cases the cause cannot be
identified.

Affected Population

It is estimated that 150,000 people develop Epilepsy each year in the United
States.  Approximately 75 percent of people who have Epilepsy have symptoms
of the disorder before the age of 20 years.  Epilepsy affects males and
females in equal numbers.  Combined together approximately 2 to 3 million
Americans have Epilepsy but the majority are seizure free due to effective
medications.

Related Disorders

Symptoms of the following disorders can be similar to those of Epilepsy.
Comparisons may be useful for a differential diagnosis:

Wilson's Disease is a rare inherited disorder that affects the liver,
eyes and neuromuscular system.  Symptoms develop due to the excessive
accumulation of copper in body tissues, particularly the liver, brain and
eyes.  Early diagnosis and treatment of Wilson's Disease may prevent serious
long-term disabilities.  Neuromuscular symptoms of Wilson's Disease generally
appear between the ages of 12 and 32 years.  These symptoms may include
drooling, joint pain (dysarthria), impaired speech (dysphasia), lack of
muscle coordination, tremors, involuntary jerky muscle movements, muscle
rigidity and double vision.   Other late symptoms of Wilson's Disease may
include a decrease in cognitive abilities, behavioral changes, kidney stones,
depression and other psychiatric disturbances.  (For more information on this
disorder, choose "Wilson's" as your search term in the Rare Disease
Database).

Kok Disease (Hyperexplexia) is a very rare inherited disorder of the
neurological system.  People with Kok Disease have an excessive startle
reaction to sudden and/or unexpected noise, movement or touch.  When the
individual with Kok Disease is startled, the head may arch back and there may
be jerking muscle movements (myoclonic jerks).  When startled the individual
may also fall to the ground in a rigid position.  Some people with Kok
Disease also experience seizures.  (For more information on this disorder,
choose "Kok Disease" or "Hyperexplexia" as your search term in the Rare
Disease Database.)

Myoclonus is a neurological movement disorder in which a skeletal muscle
undergoes sudden, involuntary contractions resulting in jerky movements.
There are 3 types of Myoclonus:  Intention, rhythmical, and arrhythmic.
Intention myoclonus is characterized by episodes of involuntary muscle
contractions that are triggered by voluntary movements, such as a purposeful
action.  In arrhythmic myoclonus, muscle jerks are arrhythmic and sudden.
The muscle jerking may be confined to a single muscle or involve the all of
the skeletal muscles on one or both sides of the body.  The stimulus for the
onset of an episode may be sensory (visual, auditory, and/or tactile), or it
may be fatigue, stress or anxiety.  An extreme startle response may also be
present.  Rhythmical (segmental) myoclonus is characterized by very rapid and
frequent muscle jerks.   In contrast to Arrhythmic Myoclonus, this type of
Myoclonus is not relieved by sleep and is not triggered by sudden stimuli or
voluntary movements.  Myoclonic muscle jerks may sometimes be confused with
the muscle jerks and rigidity that occur in some forms of Epilepsy.  (For
more information on this disorder, choose "Myoclonus" as your search term in
the Rare Disease Database.)

Narcolepsy is a rare neurological sleep disorder characterized by extreme
unnatural drowsiness during the day, sudden loss of voluntary muscle tone
(cataplexy), hallucinations, sleep paralysis, and/or disrupted sleep during
the night.  Symptoms usually begin between the ages of 10 and 20 years.  The
development and severity of symptoms vary greatly among patients.
Exaggerated daytime drowsiness is usually the first symptom.  The person with
Narcolepsy may describe a feeling of sleepiness, tiredness, lack of energy,
a "sleep attack", and/or the inability to resist sleep.  People with
Narcolepsy who have cataplexy can fall asleep so suddenly that they appear to
drop to the floor unconscious.  In sleep paralysis, the person with
Narcolepsy want to move but cannot do so.  (For more information on this
disorder, choose "Narcolepsy" as your search term on the Rare Disease
Database.)

Therapies:  Standard

Epilepsy is treated with anticonvulsant drugs that attempt to prevent and
control seizures.  The drugs that are currently used include phenytoin,
valproic acid, carbamazepine, phenobarbital, clonazepam, ethosuximide,
primidone, acteazolamide, paraldehyde, trimethadione, corticotropin and
corticosteroids.  Brain surgery for Epilepsy that is caused by a brain tumor
or drug-resistant temporal lobe epilepsy, may be tried after medications have
failed to stop seizures.  Surgery is generally not performed until other
treatment methods have failed.  The success rate for such surgeries is
approximately 55 to 70 percent.

It is very important to protect the Epilepsy patient from self-injury
during a seizure.  Protective measures should include clearing the area of
any object that is hard or sharp, loosening tight clothing and placing a
flat, soft object under the head.  The patient should be turned on the side
and if possible something soft and flat (such as a pad or wallet) may be
placed between the teeth.  Restraint is not advised.  The administration of
artificial respiration should be attempted only if breathing does not start
after the seizure has stopped.  When the seizure is over, the patient should
be allowed to sleep or be helped home if he or she seems confused.  If the
patient wants to sleep, the head and shoulders should be raised.

It is possible that some people with Epilepsy who have had no seizures
during an extended period of time (several years), may reduce or discontinue
anticonvulsant medications under close supervision by a doctor.

Therapies:  Investigational

At the present time studies are being conducted on many experimental anti-
convulsant drugs for the treatment of Epilepsy.  These drugs include
nimodipine, praziquantel, clomiphene and lorazapam.  More research is
necessary to determine their long-term safety and effectiveness as treatments
for Epilepsy.

The orphan drug Fosphentoin is being tested as a treatment for acute
attacks of Grand Mal Status Epilepticus.  The drug is manufactured by Warner-
Lambert Co., 2800 Plymouth Road, Ann Arbor, MI, 48105.

Wallace Laboratories is testing Felbamyl (Felbamate), an antiepileptic
drug.  Felbamate is also being studied for use in Lennox-Gestaut Syndrome
(Myoclonic Astatic Petit Mal Epilepsy).  More research must be conducted to
determine long-term safety and effectiveness of this drug as a treatment for
Epilepsy.

A form of Diazepam (Valium) that can be administered rectally is being
tested by Usher-Smith Laboratories, Inc. in Minneapolis, MN for the treatment
of acute repetitive seizures.

This disease entry is based upon medical information available through
November 1992.  Since NORD's resources are limited, it is not possible to
keep every entry in the Rare Disease Database completely current and
accurate.  Please check with the agencies listed in the Resources section for
the most current information about this disorder.

Resources

For more information on Epilepsy, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     The Epilepsy Foundation of America
     4351 Garden City Drive
     Landover, MD 20785
     [phone]
     [phone]

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     800-336-GENE
     301-652-5553

References

CECIL TEXTBOOK OF MEDICINE, 19th Ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990.  Pp. 2202-2213.

INTERNAL MEDICINE, 2nd Ed.:  Jay H. Stein, ed.-in-chief; Little, Brown and
Co., 1987.  Pp. 2145.

PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice
Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989.  Pp.
249-270.

SUBLINGUAL LORAZAPAM IN CHILDHOOD SERIAL SEIZURES. J. Yager et al.; AM J
DIS CHILD (September 1988; issue 142 (9)).  Pp. 931-932.

SEIZURE CONTROL WITH CLOMIPHENE THERAPY.  A CASE REPORT.  A. Herzog; ARCH
NEUROL (February 1988; issue 45 (2)).  Pp. 209-210.

CONTROL OF EPILEPSY PARTIALIS CONTINUANS WITH INTRAVENOUS NIMODIPINE.
REPORT OF TWO CASES.  L. Brandt et al.;  J. NEUROSURG (December 1988; issue
69 (6)).  Pp. 949-950.