Epilepsy


Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:


Definition

Generally speaking, epilepsy describes a tendency to recurrent seizures.

The International League Against Epilepsy (ILAE) in 2014 defined epilepsy as any of the following:
1) At least two unprovoked (or reflex) seizures occurring more than 24 hours apart
2) One unprovoked (or reflex) seizure, and a probability of further seizures similar to the general recurrence risk (at least 60%) after two unprovoked seizures, occurring over the next 10 years.
3) Diagnosis of an epilepsy syndrome

Epilepsy may be considered resolved when an age-dependent syndrome is outgrown or when a person is seizure-free for at least 10 years with at least 5 years off anti-seizure medicines.




Taxotomy

Subclassifications Epidemiology Clinical features
Drug resistant epilepsy None



Aetiology

Disorder Clinical features Associated features Investigations Disease modifying treatment available Time critical
Lennox-Gastaut syndrome Seizure

Associated genes

Gene
SCN1A Search ClinVar Search ClinGen
ALG13 Search ClinVar Search ClinGen
DEPDC5 Search ClinVar Search ClinGen
ALDH5A1 Search ClinVar Search ClinGen
ARHGEF9 Search ClinVar Search ClinGen
ASAH1 Search ClinVar Search ClinGen
ATP1A2 Search ClinVar Search ClinGen
ATP1A3 Search ClinVar Search ClinGen
CDH2 Search ClinVar Search ClinGen
CASK Search ClinVar Search ClinGen
DNM1 Search ClinVar Search ClinGen
EEF1A2 Search ClinVar Search ClinGen
STX1B Search ClinVar Search ClinGen
STXBP1 Search ClinVar Search ClinGen
SNAP25 Search ClinVar Search ClinGen
SV2A Search ClinVar Search ClinGen
AP3B2 Search ClinVar Search ClinGen
GRIN2B Search ClinVar Search ClinGen
GRIN2A Search ClinVar Search ClinGen



Associated Disorders





Clinical features







Treatment


Individuals with epilepsy should be informed about the risk of sudden unexplained death in epilepsy (SUDEP). Risk factors for SUDEP include:
- tonic-clonic seizures
- nocturnal seizures
- sleeping alone and to a lesser extent living alone
- substance abuse


Pharmacological treatments




Research


Animal models

Zebrafish models

Drosophilia models

Mouse models

Rat models


Cellular models

Heterologous expression models cellular models

iPSC models


Open questions

How can we determine who will have further seizures after an initial seizure?
How can we determine who is at risk of and prevent SUDEP?
How do we select the best ASM for a patient?
How can we optimally treat the neuropsychiatric disorders associated with epilepsy?