EPILEPSY

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EPILEPSY

Greek verb: “EPILAMBANEIN”

To be seized, to be overwhelmed by surprise.

uncontrollled epilipsy can be a threat to life:


 In adults, especially those who are newly diagnosed, the risk of death is approximately
three times higher compared to the general population. This increased mortality rate is
often associated with accidents, injuries, or complications that may arise during a
seizure.
 For children with epilepsy, the risk of death varies depending on the type of seizures they
experience:
a) Absence epilepsy: This type of epilepsy is characterized by brief lapses of consciousness
and staring spells. Generally, the risk of death from absence epilepsy is low, and
fatalities related to this specific type of seizure are rare.
b) Partial and Generalized seizures: These types of seizures involve more pronounced and
noticeable symptoms, and the risk of death is higher than that of absence epilepsy.
Studies suggest that around 8-25% of children with partial or generalized seizures may
face an increased risk of mortality, especially if their epilepsy remains uncontrolled.

Epilletic seizure may cause injuries:


Fractures of Vertebrae common during seizures.

 Head injuries from falls.


 Fractures of facial bones
 Scalding/Burning

└ Africa – “Burn Disease”

└ Falling into open fires.

 Western world – Radiator burns, Kettles/Hot Fluids; Cooking

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.

Genetic and idiopathic epilepsies:


Many genetic epilepsies are associated with mutations or variations in genes that encode ion
channels and receptors in the brain. These ion channels and receptors play a crucial role in
regulating the flow of ions (such as sodium, potassium, and chloride) across the cell membranes
of neurons. Dysfunctional ion channels and receptors can lead to abnormal electrical activity in
the brain, which is a hallmark of epilepsy.

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.

Other cause of seizures:


Symptomatic seizures – caused by other factors, are NOT epilepsy:

 Hypo/hyperglycaemia (low/high blood glucose)


 Lowered sodium/ calcium/ magnesium ions
 Drug induced pro-convulsant toxicity
 Withdrawal seizures – (sedatives; alcohol)
 Sleep deprivation

Causes of Epilepsy-Brain lesions:


 Brain lesions resulting from head injury or disease may act as a focus (in a specific brain area) for
abnormal electrical activity.
 Localised brain lesions may provoke seizures in a specific related area of the body.
 Penetrating wounds may produce seizuregenerating lesions.
 Hypoxia/Ischaemia may lead to cellular damage and subsequent abnormal electrical activit

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

Current classification is based on seizure types.

Partial Seizures (Focal Seizures):

 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.

[Defined by preservation of consciousness]

 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.

[- Defined by impairment of consciousness]


 Secondarily Generalized Partial Seizures: These seizures begin as focal seizures
(simple or complex partial) but then spread and generalize to involve the entire brain,
leading to loss of consciousness and tonic-clonic (convulsive) movements.
[(Partial seizures that “generalise” throughout the brain). - Defined by loss of
consciousness with muscle contraction (tonic) and relaxation (clonic)]

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.

What happens during a fit or seizure:


 Generalised convulsive tonic-clonic seizure.
 Dramatic event - sometimes preceded by an unusual sensory perception (eg smell?).
 Lasting from a few seconds or intermittently over days.
 May be preceded by an AURA - EEG (electroencephalogram) changes occurring.

Generalised convulsive tonic-clonic seizure:

 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.

(d) In a recovery position to keep airways clear.

Absence Epilepsy :

 Many people with absence epilepsy never experience a generalised fit.


 Seizures limited to periods of absence with unusual EEG activity.
 Person becomes pale and staring - visual or auditory hallucinations.
 Characterised by Electroencephalogram (EEG) - 3-5Hz Spike/Wave discharges

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