Epilepsy/Sleep Flashcards

1
Q

phenytoin and albumin

A

phenytoin loves to bind to albumin (~90%), and only unbound PHT is pharmacologically active. but some drugs can rip phenytoin apart from albumin, setting more free and causing toxicity

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2
Q

phenytoin metabolism

A

CYP P450

fluconazole and TMP also use this pathway and can increase levels of phenytoin

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3
Q

risk factors to develop first febrile seizure

A

close relative with febrile seizures
developmental delay
NICU stay for > 30 days
going to daycare

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4
Q

risk of recurrent febrile seizures

A

family history of febrile seizure
younger onset of age (<18 months)
lower peak temperature
shorter duration of fever prior to seizure

NO difference in recurrence between simple and complex…weird

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5
Q

progressive myoclonic epilepsies (5)

A

Unverricht-Lundborg syndrome, Lafora body disease, MERFF, sialidosis, and NCL

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6
Q

Unverricht-Lundborg (Baltic myoclonic epilepsy) - inheritance, mutation, presentation?

A

AR
EPM1 mutation encoding for cystatin B
present between late childhood/adolescence with stimulus-sensitive myoclonus that worsens, eventually other seizure types with neurocognitive decline.
MRI normal. EEG gen spike-waves/polyspikes

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7
Q

MERFF

A

migraines, short stature, ataxia, cognitive impairment, deafness, epilepsy, elevated lactate

generalized proximal weakness –> muscle biopsy shows ragged red fibers

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8
Q

sialidosis - inheritance, mutation,labs,2 types

A

AR, NEU1 mutation
dx: high urinary sialyl oligosaccharides and lysosomal enzyme deficiency in leukocytes/fibroblasts

Type 1: a-neuraminidase deficiency
teens/adults with action myoclonus, progressive ataxia, GTCs, vision loss. CHERRY RED SPOT!

Type 2: N-acetyl neuroaminidase and B galactosialidase
babies-young adults - myoclonus, coarse facial features, corneal clouding

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9
Q

Lafora body disease (inheritance, sx, EEG, dx)

A

AR, EPM2A mutation encoding laforin

present in adolescence - various seizure types including occipital sz with transient blindness/hallucinations

occipital epis and gen bursts on EEG

Lafora bodies are PAS + inclusion bodies in neurons, heart, and sweat glands

Dx: skin biopsy

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10
Q

Rasmussen’s encephalitis - antibody, path findings

A

GluR3 subunit of AMPA glutamate receptor antibody

path shows perivascular cuffs of lymphocytes + monocytes, glial nodules in gray and white matter. spongy tissue degeneration

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11
Q

AED pharmacokinetics in elderly

A

lower gastric acidity –> weakly basic drugs less easily absorbed and weakly acidic drugs more easily absorbed

gastric emptying is slowed
volume of distribution of hydrophilic and lipophilic drugs smaller

hepatic metabolism decreases, renal excretion decreased

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12
Q

what does IV flumazenil do

A

reverse benzo overdose

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13
Q

work up for adults with 1st unprovoked seizure

A

same as kiddos…MRI brain and EEG!

dont need labs, tox, LP unless concerns

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14
Q

when is highest risk for repeat seizure after first unprovoked one?

A

2 years after sz

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15
Q

EEG pattern of 1 Hz generalized periodic pattern consistent with what dx?

A

CJD

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16
Q

K complex and sleep spindles features of what stage of sleep

A

N2

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17
Q

first REM sleep period occurs how long after sleep onset

A

90 minutes

18
Q

when do normal people get K complexes and spindles

A

K complexes - 5 months old
sleep spindles - 2 months, but look like adult sleep spindles by 2 years

19
Q

apnea-hypopnea index - mild, mod, severe?

A

0-5 per hour is allowed
5-15 - mild
15-30 - moderate
>30 - severe

20
Q

apnea with no respiratory effort

A

central sleep apnea

21
Q

cause of central sleep apnea in adults

A

comorbid heart failure -
treat underlying condition and CPAP

22
Q

what stage of sleep do non-REM parasomnias occur in (i.e. sleep walking, night terrors) and what part of night do they occur

A

slow wave sleep (n3)

first third of night when SWS most common

23
Q

what part of night do nightmares occur

A

last third of night

24
Q

which stage of sleep has greater heart rate variability

A

REM sleep

absence of heart rate variability suggests dysautonomia

25
Q

do dreams occur only in REM?

A

nope, mostly, but can be in non-REM too

26
Q

recurrent hypersomnia in a teen with mood changes, lasting days-weeks but normal in between episodes

A

Kleine-Levin syndrome

27
Q

dx of narcolepsy by sleep study (2 things)

A
  1. mean sleep latency <8 minutes
  2. REM sleep within 15 minutes of sleep onset during 2+ of four nap trials
28
Q

treatment for cataplexy

A

gamma-hydroxybutyrate

TCAs or SSRIs also used

29
Q

narcolepsy with cataplexy - CSF testing

A

low hypocretin levels in CSF (due to loss of hypocretin neurons in lateral hypothalamus)

will be normal in narcolepsy without cataplexy

30
Q

advanced sleep phase syndrome

A

me - want to go to bed at 9 pm and when i go to bed early and wake up early i feel refreshed

31
Q

delayed sleep phase syndrome

A

charles - wants to go to bed at midnight and wake up at 10 am, then he feels refreshed

32
Q

what brain structure regulates our circadian rhythms

A

suprachiasmatic nucleus in anterior hypothalamus

33
Q

conditions associated with restless leg syndrome

A

folate deficiency, chronic renal failure, neuropathy, myelopathy, MS, diabetes, amyloidosis, cancer, peripheral vascular disease, rheumatoid arthritis, hypothyroid

antidepressants (EXCEPT bupropion) will worsen RLS sx

34
Q

pathophys of RLS

A

altered dopaminergic transmission

DA agonists (pramipexole and ropinirole) used to treat
also gabapentin, pregabalin, opioids

35
Q

phenytoin pharmacokinetics

A

zero order kinetics

constant set amount eliminated over time, not constant proportion

metabolism is NOT proportionate to the concentration of the drug

36
Q

autosomal dominant nocturnal frontal lobe epilepsy - genetics

A

autosomal dominant
ENFL1 gene, affects CHRNA4 gene which is important for nicotinic AChRs

37
Q

where to stim with DBS for refractory epilepsy

A

anterior nucleus of thalamus (papez circuit)

38
Q

RLS treatment

A

ropinirole or pramipexole
DAR AGONISTS

39
Q

how to treat hypoventilation due to neuromuscular dz

A

bi-level ST mode (spontaneously timed mode helps patients who may not be able to trigger the vent)

40
Q

othahara syndrome vs early myoclonic encephalopathy

A

othahara has burst suppression during wake and sleep

early myoclonic epileptic encephalopathy - burst suppression during sleep + myoclonic seizures

41
Q

FIRDA assoc with what?

A

increased ICP