Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Chen-Ching board review > Epilepsy and Sleep > Flashcards

Epilepsy and Sleep Flashcards

1
Q

Gene most commonly associated with generalized epilepsy with febrile seizures plus (GEFS+)

A

SCN1A (same gene as Dravet)

Other genes associated include other Na channel subunits like SCN1B and SCN2A) and GABA_A receptor subunits (GABRD and GABRG2).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Treatment for Rasmussen’s syndrome refractory to medical management

A

Hemispherectomy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What medication is frequently used for JME but may worsen myoclonic seizures?

A

Lamotrigine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

At what age does the typical PDR form?

A

8-10 years

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

In addition to slowing and other nonspecific EEG abnormalities, what finding can be associated with HSV encephalitis?

A

Periodic lateralized epileptiform discharges (PLEDs)

(These can also be seen with other destructive processes like stroke and tumor)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Epilepsy syndrome with focal motor, sensory, or autonomic symptoms, primarily seen in face +/- arms,are classically primarily nocturnal?

EEG finding?

A

Benign epilepsy with centrotemporal spikes.

EEG: centrotemporal spikes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Prognosis for BECTS

A

Good - usually normal development (although a/w things like ADHD), seizures typically resolve in teenage years

(Benign epilepsy with centro-temporal spikes (BECTS), aka Benign Rolandoc Epilepsy)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

ASM with zero-order kinetics within/slighty above its therapeutic window?

A

Phenytoin (hepatic enzymes that metabolize become saturated)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Idiosyncratic reactions to phenytoin (3)

A
  1. SJS
  2. Aplastic anemia
  3. Hepatic failure
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Effects of chronic phenytoin that can be seen on imaging?

A

Cerebellar atrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Formula for phenytoin load

A

(Goal - current level) * wt_kg * vol_distribution

(Vol_distribution often taken to be 0.8.

(Goal is typically about 20 in status, goal is 10-20 overall)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Neurologic side effects of chronic phenytoin (4)

A
  1. Ataxia with cerebellar atrophy
  2. Nystagmus and diplopia
  3. Dysarthria
  4. Peripheral neuropathy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Superficial side effects of phenytoin (3)

A
  1. Gingival hyperplasia
  2. Coarse facial features
  3. Hirsuitism
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Hematologic side effect of phenytoin (2)

A
  1. Aplastic anemia (rare, idiosyncratic)
  2. Thrombocytopenia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Nutritional effects of phenytoin (2)

A
  1. Folate deficiency
  2. VItamin D deficiency -> osteoporosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Hematologic side effect of VPA?

A

Thrombocytopenia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

In addition to liver injury, what other solid organ toxicity can VPA have?

A

Pancreatitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Serious idiosyncratic reactions to carbamazepine (3)

A
  1. SJS
  2. Aplastic anemia
  3. Leukopenia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What pharmacokinetic feature of carbamazepine requires slow uptitration?

A

Autoinduction of its own metabolism

(This is not seen with oxcarb)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

How is carbamazepine eliminated?

A

Hepatic metabolism -> renal excretion of metabolites (so can be problematic in either liver or kidney failure)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What metabolic difference between carbamazepine and oxcarbazepine can allow oxcarabzepine to have less toxicity?

A

CBZ is metabolized to 10,11-CBZ epoxide, which leads to many side effects.

OXC is not.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

How is topiramate eliminated?

A

Renally

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Acute idiosyncratic effect of topiramate?

A

Acute angle closure glaucoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Specific mechanism of lacosamide

A

Enhancing slow inactivation of Na channels

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

In addition to Na channels, what enzyme can lacosamide affect?

A

CRMP-2 (involved in neuronal differentiation and axonal guidance - the effects of this are unclear)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Target of rufinamide

A

Modulation of Na channels (leads to prolonged inactive state)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

Aicardi’s syndrome features (3)

A
  1. Infantile spasms
  2. Chorioretinal lacunae (other eye problems too)
  3. Agenesis of the corpus callosum
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Inheritence of Aicardi’s syndrome

A

X-linked DOMINANT (so seen in girls)

(Fatal in boys)

29
Q

Other name for Doose’s sydrome

A

Myoclonic-astatic epilepsy

(Astatic; loss of tone)

30
Q

EEG findings in myoclonic-astatic epilepsy (Doose’s syndrome)

A
  1. 2-3 Hz irregular spike-and-wave
  2. Rhythmic parietal theta activity (4-7 Hz)
31
Q

Prognosis in myoclonic-astatic epilepsy (Doose’s syndrome)

A

Good in many cases, but in some cases associated with intractible seizures and developmental delay

32
Q

Other name for Ohtahara’s syndrome

Associated EEG pattern?

A

Early infantile epileptic encephalopathy

EEG: burst auppression

33
Q

Devestating epilepsy syndrome with seizures in early infancy (1 days - 3 months onset)

A

Ohtahara’s syndrome aka early infantile epileptic encephalopathy

34
Q

Syndrome of brief myoclonic seizures beginning between 4 months and 3 years.

Prognosis?

A

Benign myoclonic epilepsy of infancy (BMEI)

Prognosis is good- usually seizures resolve in a year

35
Q

Otherwise healthy newborns develop frequent seizures associated with apnea in first week of life.

Prognosis?

A

Benign neonatal seizures (“fifth day fits)

Prognosis is good - resolution by 4-6 weeks, normal development

36
Q

Genes linked to benign neonatal seizures (“fifth day fits”)

A

VGKC - KCNQ2 and KCNQ3

37
Q

Other name for Panayiotopoulos syndrome

A

Early-onset childhood occipital epilepsy (a idiopathic occipital epilepsy)

38
Q

Seizures with tonic eye deviation and vomiting

A

Panayiotopoulos syndrome (aka early-onset childhood occipital epilepsy)

39
Q

EEG finding in Panayiotopoulos syndrome (aka early-onset childhood occipital epilepsy)

A

Occipital spikes in 1-3 Hz bursts only with eyes closed or darkness

40
Q

Prognosis of Panayiotopoulos syndrome

A

Good - resolution within several years

41
Q

Other name for Landau-Kleffner syndrome

A

Acquired epileptic aphasia

42
Q

Prognosis in Landau-Kleffner sydrome aka acquired epileptic aphasia

A

Mixed - some recover language, some do not. Generally seizures can be controlled with medication

43
Q

Syndrome of mixed seizure types with lnew language dysfunction

A

Landau-Kleffner syndrome aka acquired epileptic aphasia

44
Q

Syndrome of episodes of hypermotor behaviors (e.g. thrashing, jerking) that occurin in non-REM sleep

A

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

Newer name: sleep-related hypermotor seizures (SHE)

45
Q

Genes linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) aka sleep-related hypermotor seizures (SHE)

A

Nicotinic acetylcholine receptor subunits - CNRNA4 and CHRNB2

46
Q

Classic ASM used for autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) aka sleep-related hypermotor seizures (SHE)

A

Carbamazepine

(Other Na channel blockers used as well)

47
Q

Typical age of onset of ESES

A

Peak 4-5 years, typically seen 1-12 years

48
Q

EEG finding in ESES

A

Slow spike-waves during in non-REM sleep.

49
Q

In “figure of 4” movement in seizures originating in SMA, how does it lateralize?

A

Extended arm is contralateral to seizure focus

(Makes sense to me - attention is contralateral seizure)

50
Q

Localization of seizure beginning with unilateral dystonia hand/arm posturing

A

Temporal lobe contralateral to dystonic arm (possibly due to effects on the pasal ganglia)

51
Q

Name for seizures with uncontrollable episodes of laughter.

Classic localization?

Classic associated finding?

A

Gelastic seizures

Hypothalamus (although can be elsewhere)

A/w hypothalamic hamartomas

52
Q

Genetic syndrome with stimulus-sensitive myoclonus followed by seizures, then ataxia and cognitive decline.

Genetic mutation?

A

Unverricht-Lundborg syndromea.k.a. Baltic myoclonis epilepsy (a progressive myoclonic epilepsy).

Mutation: EPM1 (cystatin B, involved with apoptosis).

53
Q

What are some progressive myoclonic epilepsies? (5)

A
  1. Unverricht-Lundborg syndrome
  2. Lafora body disease
  3. MERRF
  4. Sialidosis
  5. Neuronal ceroid lipofuscinosis
54
Q

Progressive myoclonic epilepsy with a cherry red macula

Genetic cause?

A

Sialidosis

Type 1 (milder, adolescent onset): alpha-neuraminidase

Type 2 (more severe, infant onset): N-acetyl neuraminidase

55
Q

Progressive myoclonic epilepsy with multiple occipital lobe seizures as well as multiple other seizure types and neurological decline?

Genetic cause?

A

Lafora body disease (PAS-posiive polyglucosan infclusion bodies)

EPM2A mutation, AR (laforin, ribosomal protein, mechanism unclear)

56
Q

Antibody associated with Rasmussen encephalitis

A

AMPA receptor, GluR3 subunit (although not a specific finding

57
Q

What is a typical REM latency?

A

90 minutes

58
Q

EEG features of N1 sleep (5)

A
  1. Roving eye movements.
  2. Slowing
  3. Attenuation of PDR
  4. Vertex sharp waves
  5. POSTS (positive occipital sharp transients of sleep)
59
Q

EEG features of N2 sleep (2)

A
  1. K complexes
  2. Sleep spindle
60
Q

EEG feature of N3 sleep (1)

A

Delta >20%

61
Q

Apnea-hypopnea index in mild, moderate, and severe OSA

A

Mild: 5-15/hr
Moderate: 15-30/hr
Severe: >30/hr

62
Q

Which stage of sleep do sleep terrors occur in?

A

N3 / slow wave sleep (as do sleepwalking and confusional arousals)

63
Q

Which stage of sleep does sleepwalking occur in?

A

N3 / slow wave sleep (as do sleep terorrs and confusional arousals)

64
Q

What phase of sleep has higher risk of obstructive respiratory events?

A

REM sleep (accessory respiratory muscle are atonic)

65
Q

Dayslong episodes of excessive sleepiness/sleep time associated with irritability and impulsivity?

A

Kleine-Levin syndrome (aka recurrent hypersomnia)

66
Q

Brain region that is site of pathology in narcolepsy with cataplexy

A

Lateral hypothalamus (hypocretin neurons)

67
Q

What CSF abnormality is seen in narcolepsy with cataplexy?

A

Low hypocretin

(It is normal in narcolepsy without cataplexy)

68
Q

What antidepressant is least likely to cause RLS?

A

Buproprion (doesn’t have serotonergic activity)

Chen-Ching board review (15 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions