Adult and Pediatric Epilepsy

Question 1

Mutation associated with GEFS+?

Answer 1

SCN1A

Question 2

If there are GTC seizures along with absence seizures, which agents should you use?

Answer 2

Depakote, lamotrigine

Question 3

What are meds that can aggravate absence epilepsy?

Answer 3

phenytoin, carbamazepine, gabapentin, lamotrigine

Question 4

Dosing of topiramate that causes increase metabolism of OCP?

Answer 4

> 200 mmg/d

Question 5

1st time therapy for benign rolandic epilepsy if you choose to treat it?

Answer 5

carbamazepine

Question 6

PLEDs (periodic lateralized epileptiform discharges)

Answer 6

unilateral or bilateral, high amplitude, sharp, and slow wave complexes at 0.5 - 3 hz
*any destructive process such as anoxia, HSV encephalitis, drug toxicity, and other toxic metabolic etiologies

Question 7

West syndrome triad

Answer 7

infantile spasms, hypsarrhythmia, psychomotor arrest/regression

Question 8

Vigabatrin is associated with what ocular finding?

Answer 8

retinal toxicity

Question 9

1st line treatment for West syndrome?

Answer 9

ACTH

Question 10

Formula for calculating loading dose

Answer 10

(target total level - current total level) x (kg body weight x volume distribution)

Question 11

Depakote dose what to lamotrigine’s half life?

Answer 11

increases half life by 24-48 hours

Question 12

MOA benzos?

Answer 12

GABAa agonist, leads to subsequent activation of chloride channels–>hyperpolarization of the neuronal membrane and decreased neuronal excitability

Question 13

Fencer’s posturing seizure localization

Answer 13

SMA
Seizure coming from the side of arm flexion.
head deviates towards contralateral side

Question 14

Which syndrome has seizures that are sensitive to hyperthermia?

Answer 14

Dravet

Question 15

Which syndrome is catastrophic and has burst suppression pattern that is present during wakefulness and sleep?

Answer 15

Ohtahara
*oooohshit that’s bad

Question 16

Temporal lobe seizure lateralizing sign?

Answer 16

seizure arises from contralateral side to the dystonic extremity
automatisms ipsilateral to the focus

Question 17

Syndrome with stimulus induced myoclonus?

Answer 17

Unverricht-Lundborg
*mutation in EPM1 gene

Question 18

Sialidosis type 1 enzyme deficinecy?

Answer 18

alpha-neuraminidase
*adolescents and adults

Question 19

Sialidosis type 2 enzyme defiency?

Answer 19

alpha-acetyl neuraminidase and beta-galactosialidase
*neonatal and second decade of life

Question 20

EPM2A mutation is associated with what syndrome?

Answer 20

Lafora body disease

Question 21

What disorder has pathology showing perivascular cuffs of lymphocytes and monocytes and glial nodules in the gray and white matter?

Answer 21

Rasmussen’s encephalitis

Question 22

PLEDs

Answer 22

sharply contoured waves with various morphologies
occur every 1-2 seconds, lateralized to one hemisphere
*stroke, HSV, infection, hemorrhage, tumor

Question 23

REM period normally occurs how long after sleep onset?

Answer 23

90 mins

Question 24

Stage N1 sleep characteristics?

Answer 24

-slow rolling eye movements, reduction in muscle artifact, attenutation of the occipital dominant alpha and increaseing slower frequencies
- can also have vertex waves and POSTS

Question 25

Stage N2 sleep?

Answer 25

-K complexes -sleep spindles

Question 26

REM sleep?

Answer 26

-alpha may be seen in occipital leads -rapid eye movements

Question 26

Stage N3 sleep?

Answer 26

delta activity more than 20%

Question 27

OSA vs central sleep anpea?

Answer 27

in central sleep apnea there is transient central cessation of respiratory drive and airway obstruction does not occur

Question 28

Sleep terror

Answer 28

-non-REM parasomnia -slow wave or stage 3 sleep -doesn't recall, wake up confused

Question 29

sleep walking

Answer 29

-non-REM parasomnia -stage 3 sleep

Question 30

what type of sleep disorder has an increased prevalence of alpha synucleinopathies?

Answer 30

REM sleep behavior disorder

Question 31

REM parasomnia

Answer 31

-loss of normal atonia that happens during REM -complex motor activity -- acts out dreams, violent

Question 32

Kleine-Levin syndrome

Answer 32

recurrent hypersomnia, can last for several days or weeks with aggresiveness, confusiong and hypersexuality INTERMITTENT

Question 33

What structure is involved in the pathophsyiology of nacroplexy with cataplexy

Answer 33

lateral hypothalamus -loss of hypocretin neurons -LOW HYPOCRETIN LEVELS

Question 34

Teenager who stays up all night, wakes up tired but when they sleep in they feel fine?

Answer 34

delayed sleep phase syndrome