EPILEPSY
EPILEPSY
EPILEPSY
Epilipsy facts:
Everyone has the potential to experience a seizure.
Epilepsy is more common in males than females
Incidence is highest between the ages of 0-10 (Over 2% of children experience at least
one seizure before the age of 2).
Brain damage is a possible cause of epilepsy.
Most people with epilepsy have similar levels of intelligence and brain function as the
general population.
Genetic factors are important in the development of epilepsy particularly generalised
seizures.
Here are some examples of specific genetic epilepsies and the ion channels or receptors they are
associated with:
1. Generalized Epilepsy with Febrile Seizures Plus (GEFS+): This is a group of epileptic
syndromes that includes febrile seizures and other types of seizures. Mutations in genes
encoding sodium channel subunits (α1 and β1) and GABA-A receptors have been
implicated in GEFS+.
2. Benign Familial Neonatal Seizures: This is a benign form of epilepsy that affects
newborns. It has been linked to mutations in voltage-gated potassium channel genes.
3. Childhood Absence Epilepsy: This form of epilepsy is characterized by brief lapses of
consciousness (absence seizures). It is associated with mutations in genes encoding
GABA-A receptors and chloride channels, which play essential roles in inhibitory
signaling in the brain.
4. Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE): ADNFLE is a rare
form of epilepsy that causes seizures during sleep. It has been linked to mutations in
genes encoding nicotinic acetylcholine receptor subunits, which are involved in
cholinergic signaling in the brain.
Idiopathic epilepsy, as mentioned before, refers to epilepsy cases in which no identifiable cause
is found despite thorough medical evaluation. While the majority of epilepsy cases have no
known single cause, research into the genetic basis of epilepsy has revealed several genes and
pathways that can contribute to its development.
What is epilepsy?
Epilepsy is a condition characterised by recurrent fits, seizures or convulsions. (A fit and seizure
are the same, convulsion is a seizure with associated motor activity).
Fit and seizure are names used to describe abnormal electrical discharges in the cerebral cortex
and the involuntary motor events which may arise.
Sometimes transient loss of consciousness may occur but not always
Reoccurring hallucination
Forced thinking
Convulsion used to describe seizures in which motor events occur.
Classification of epilepsy
Classification of epilepsy is complex.
Idiopathic epilepsy has no identifiable cause. Symptomatic epilepsy has an identifiable cause (eg
a lesion). -Primary symptomatic epilepsy has an unknown cause. -Secondary symptomatic
epilepsy has a clinically identifiable cause
Simple Partial Seizures: Also known as focal aware seizures, these seizures do not
cause loss of consciousness. They originate in a specific area of the brain and may cause
various sensory or motor symptoms, such as tingling, twitching, or visual disturbances.
Complex Partial Seizures: Formerly called focal impaired awareness seizures, these
seizures are characterized by altered consciousness or awareness. The person may exhibit
repetitive movements, confusion, or engage in purposeless behaviors during the seizure.
Generalized Seizures:
Tonic-Clonic Seizures: Also known as grand mal seizures, these are generalized seizures
that involve loss of consciousness, stiffening (tonic phase), and rhythmic jerking
movements (clonic phase).
Absence Seizures: Formerly called petit mal seizures, absence seizures are brief episodes
of staring or "absence" without any convulsions. They typically last for a few seconds
and may go unnoticed.
Myoclonic Jerks: Myoclonic seizures manifest as sudden, brief, and involuntary muscle
jerks. These jerks can affect a specific muscle or group of muscles.
Atonic Seizures: Atonic seizures, also known as drop attacks, cause a sudden loss of
muscle tone, leading to a person falling or slumping to the ground. There is a brief loss of
consciousness during these seizures.
Unilateral Seizures: Unilateral seizures refer to seizures that affect only one side of the
body. They can be partial (focal) seizures or may be associated with specific epilepsy
syndromes.
The body enters a rigid or tonic phase and the person falls to the ground (this phase is
short -1 min.).
Rhythmic muscle jerking movements (clonic phase) lasting a few minutes.
Foaming mouth. [May suffer injury from fall or muscle movement].
Stop spontaneously, person drowsy or unconscious for minutes or hours.
(a) There is a cry and loss of consciousness, arms flex up then extend in.
(b) Arms remain rigid (tonic phase) for a few seconds.A series of jerking movements take place (clonic
phase) as muscles contract and relax together.
(c) The jerking slows down and stops.
Absence Epilepsy :