ILAE: Epilepsy Syndromes (Variable Age)

Juvenile Absence Epilepsy (JAE)

• Generalized epilepsy that starts in adolescence characterized by frequent absence seizures, often with GTCS and myoclonic jerks.
• EEG shows 3 Hz spike-and-wave or polyspike-and-wave discharges on normal background.
• Treatment involves valproate, lamotrigine, ethosuximide while avoiding sodium channel blockers.

Juvenile Myoclonic Epilepsy (JME)

• Characterized by myoclonic jerks, usually in the morning accompanied by GTCS and absence seizures.
• EEG shows generalized 4-6 Hz polyspike and slow wave.
• Treated with valproate as first-line, or levetiracetam and lamotrigine, while avoiding certain medications.

Generalized Tonic-Clonic Seizures Alone (GTCA)

• Characterized by generalized tonic-clonic seizures without myoclonus or absences.
• EEG shows generalized spike-and-wave or polyspike discharges.
• Treatment with valproate, lamotrigine, or topiramate.

Childhood Occipital Visual Epilepsy (COVE)

• Self-limited focal epilepsy presenting with visual symptoms and occipital spikes.
• EEG shows occipital sharp/spike-and-wave mainly in sleep may remit spontaneously.
• Involves focal aware seizures with visual phenomena.
• ASM optional and often remits spontaneously.

Photosensitive Occipital Lobe Epilepsy (POLE)

• Visual seizures induced by light, strong female predominance, often drug-responsive.
• Characterized by focal aware visual seizures.
• EEG shows occipital spikes/polyspikes with photic stimulation sensitivity.
• Avoid triggers, ASM as needed.

Sleep-Related Hypermotor Epilepsy (SHE)

• Motor seizures during sleep with hyperkinetic movements, often familial or structural cause.
• Includes hyperkinetic motor seizures, tonic/dystonic, often during sleep.
• EEG shows frontal epileptiform discharges during sleep.
• Treatment with ASMs; surgery for drug-resistant cases.

Familial Mesial Temporal Lobe Epilepsy (FMTLE)

• Focal seizures often with auras and autosomal dominant inheritance pattern.
• Includes focal seizures with autonomic or psychic auras.
• EEG shows temporal lobe spikes.
• Tends to need ASMs, with possible surgery.

Familial Focal Epilepsy with Variable Foci (FFEVF)

• Inherited and involves focal seizures in family members from different brain areas.
• Presenting with focal aware or impaired seizures from multiple regions
• EEG shows variable focal discharges.
• ASM with surgery typically needed.

Epilepsy with Auditory Features (EAF)

• Focal sensory auditory seizures, often misdiagnosed, familial cases exist.
• Patients have auditory hallucinations or auras.
• EEG shows temporal spikes.
• ASMs like carbamazepine can be used.

Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS)

• Drug-resistant focal epilepsy with hippocampal sclerosis seen on imaging.
• Focal seizures often with impaired awareness.
• EEG shows temporal interictal discharges and focal slowing.
• Surgical resection often curative.

Progressive Myoclonus Epilepsies (PME)

• Genetic syndromes with worsening myoclonus, cognitive decline, and cerebellar signs.
• Includes myoclonus, GTCS, and absence seizures.
• EEG shows generalized slowing and photosensitivity.
• Managed with Levetiracetam and valproate, avoid phenytoin.

Rasmussen Syndrome (RS)

• Progressive focal epilepsy with inflammation and neurological decline.
• Presents as focal seizures characterized by Epilepsia partialis continua.
• EEG shows unilateral slowing and epileptiform activity.
• Managed with immunotherapy, hemispherectomy.

Epilepsy with Reading-Induced Seizures (EwRIS)

• Reflex epilepsy triggered by reading, affecting orofacial muscles.
• Myoclonic seizures during reading present.
• EEG shows myoclonus visible, background slowing post-ictal.
• Avoidance of triggers and ASM is needed.