General Epilepsy notes

Question 1

Progressive myoclonic Epilepsy

Answer 1

• 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

Question 2

Dravet

Answer 2

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

Question 3

Idiopathic Generalized Epilepsies

Answer 3

Childhood Absence epilepsy
Juvenile Absence epilepsy
Juvenile Myoclonic epilepsy
Tonic Clonic seizures

Question 4

Menkes Syndrome

Answer 4

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

Question 5

Subacute Sclerosing Panencephalitis

Answer 5

Measles virus

Question 6

Autosomal dominant focal epilepsies

Answer 6

AD temporal lobe epilepsy
-mutations in LG1 gene
AD nocturnal frontal lobe epilepsy
Familial focal epilepsy with variable foci

Question 7

Landau-kleffner syndrome-clinical and EEG

Answer 7

• 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

Question 8

Landau-kleffner syndrome-treatment

Answer 8

Benzos
Steroids
VPA

Question 9

Mesial temporal lobe seizure semiology

Answer 9

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

Question 10

Lateral Temporal lobe seizure semiology

Answer 10

Auditory aura
Visual hallucinations
Vertigo

Question 11

Frontal lobe seizure semiology

Answer 11

• Occurs out of sleep
• hyperkinetic bilateral motor movements (thrashing, kicking, bicycling, clapping)
• usually preserved awareness
• post-ictal fatigue

Question 12

Motor strip seizure semiology

Answer 12

• contralateral tonic or clonic limb movements

- Jacksonian march (spread from distal part of the limb towards ipsilateral face)

Question 13

Parietal lobe seizure semiology

Answer 13

• pins/needles
• electric shocks
• numbness

Question 14

Occipital lobe seizure semiology

Answer 14

• flashing lights

- visual loss or poorly formed visual hallucinations (i.e abstract shapes)

Question 15

Other semiology

Answer 15

Figure 4 sign–> hemisphere contralateral to extended arm

Fencing posture–> hemisphere contralateral to extended arm

Question 16

Lennox-Gastaut syndrome

Answer 16

1.) multiple seizure types (atypical, tonic, and drop) 2.) cognitive impairment 3.) interictal EEG pattern (1-2.5Hz)

Age: 1-6 years

Question 17

Syndromes associated with Electrical Status Epilepticus in Slow sleep

Answer 17

• Landau-Kleffner syndrome
• Syndrome of continuous spike and wave in slow sleep
• Autistic regression with epileptiform EEG