Progressive myoclonic Epilepsy
- Ceroid lipofuscinosis
- Sialidosis type 1
- Gaucher disease type 111
- Mitochondrial cytopathies: myoclonic epilepsy with ragged red fibers
- Lafora disease
- Unverricht-Lundborg disease
- DRPLA (dentatorubral pallidoluysian atrophy)
- North Sea
Dravet
SCN1A gene - autosomal dominant
-Prolonged febrile seizures, provoked by hyperthermia
-GTC, hemiconvulsive seizures, myoclonic seizures (90%!!), atypical absence seizures
< 1yr onset
-Cognitive dysfunction, ataxia, psychomotor regression, ADHD, low muscle tone, crouch gait
Treatment: VPA, clobazam, CBD, Keppra, Topiramate, ketogenic diet, VNS
AVOID CARBAMANZEPINE, PHENYTOIN, LAMOTRIGINE, LACOSOMIDE, RUFINAMIDE
EEG: multifocal, generalized; activated by drowsiness and photic stimulation
Idiopathic Generalized Epilepsies
Childhood Absence epilepsy
Juvenile Absence epilepsy
Juvenile Myoclonic epilepsy
Tonic Clonic seizures
Menkes Syndrome
X-linked recessive
Mutation in transport protein mediating copper uptake from the intestines, therefore COPPER DEFICIENCY
Clinical findings: epilepsy, developmental delay, “kinky” hair, growth retardation, hypopigmentation of skin, osteoporosis and spur formation, muscle weakness (myeloneuropathy), ataxia, neuropathy, cognitive deficits
Subacute Sclerosing Panencephalitis
Measles virus
Autosomal dominant focal epilepsies
AD temporal lobe epilepsy
-mutations in LG1 gene
AD nocturnal frontal lobe epilepsy
Familial focal epilepsy with variable foci
Landau-kleffner syndrome-clinical and EEG
- loss of language comprehension (auditory agnosia–> inability to recognize or differentiate sound)
- verbal expression (aphasia)
- 5-12 years
- EEG: dramatic activation of interictal discharges in sleep, especially slow wave sleep; syndrome of continuous spike and wave in slow wave (grouped together because of similar interictal electrographic features); awake EEG is typically normal
Landau-kleffner syndrome-treatment
Benzos
Steroids
VPA
Mesial temporal lobe seizure semiology
Aura
- psychic phenomena (deja vu, fear)
- olfactory
- gustatory
- autonomic features (light headed, flushing)**could also be insula, amygdala
- vertigo
- epigastric rising
Observable features
- restlessness/agitation
- speech arrest/aphasia
- confusion
- oral or manual automatisms (i.e. lip smacking, picking with hands)
- dystonic posturing of contralateral limb
Lateral Temporal lobe seizure semiology
Auditory aura
Visual hallucinations
Vertigo
Frontal lobe seizure semiology
- Occurs out of sleep
- hyperkinetic bilateral motor movements (thrashing, kicking, bicycling, clapping)
- usually preserved awareness
- post-ictal fatigue
Motor strip seizure semiology
- contralateral tonic or clonic limb movements
- Jacksonian march (spread from distal part of the limb towards ipsilateral face)
Parietal lobe seizure semiology
- pins/needles
- electric shocks
- numbness
Occipital lobe seizure semiology
- flashing lights
- visual loss or poorly formed visual hallucinations (i.e abstract shapes)
Other semiology
Figure 4 sign–> hemisphere contralateral to extended arm
Fencing posture–> hemisphere contralateral to extended arm
Lennox-Gastaut syndrome
1.) multiple seizure types (atypical, tonic, and drop) 2.) cognitive impairment 3.) interictal EEG pattern (1-2.5Hz)
Age: 1-6 years
Syndromes associated with Electrical Status Epilepticus in Slow sleep
- Landau-Kleffner syndrome
- Syndrome of continuous spike and wave in slow sleep
- Autistic regression with epileptiform EEG
