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
do dreams occur only in REM?
nope, mostly, but can be in non-REM too
26
recurrent hypersomnia in a teen with mood changes, lasting days-weeks but normal in between episodes
Kleine-Levin syndrome
27
dx of narcolepsy by sleep study (2 things)
1. mean sleep latency <8 minutes 2. REM sleep within 15 minutes of sleep onset during 2+ of four nap trials
28
treatment for cataplexy
gamma-hydroxybutyrate TCAs or SSRIs also used
29
narcolepsy with cataplexy - CSF testing
low hypocretin levels in CSF (due to loss of hypocretin neurons in lateral hypothalamus) will be normal in narcolepsy without cataplexy
30
advanced sleep phase syndrome
me - want to go to bed at 9 pm and when i go to bed early and wake up early i feel refreshed
31
delayed sleep phase syndrome
charles - wants to go to bed at midnight and wake up at 10 am, then he feels refreshed
32
what brain structure regulates our circadian rhythms
suprachiasmatic nucleus in anterior hypothalamus
33
conditions associated with restless leg syndrome
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
pathophys of RLS
altered dopaminergic transmission DA agonists (pramipexole and ropinirole) used to treat also gabapentin, pregabalin, opioids
35
phenytoin pharmacokinetics
zero order kinetics constant set amount eliminated over time, not constant proportion metabolism is NOT proportionate to the concentration of the drug
36
autosomal dominant nocturnal frontal lobe epilepsy - genetics
autosomal dominant ENFL1 gene, affects CHRNA4 gene which is important for nicotinic AChRs
37
where to stim with DBS for refractory epilepsy
anterior nucleus of thalamus (papez circuit)
38
RLS treatment
ropinirole or pramipexole DAR AGONISTS
39
how to treat hypoventilation due to neuromuscular dz
bi-level ST mode (spontaneously timed mode helps patients who may not be able to trigger the vent)
40
othahara syndrome vs early myoclonic encephalopathy
othahara has burst suppression during wake and sleep early myoclonic epileptic encephalopathy - burst suppression during sleep + myoclonic seizures
41
FIRDA assoc with what?
increased ICP