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epilepsy Flashcards

0
Q

common presenting cause in venous sinus thrombosis?

A

seizure

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1
Q

approximate incidence of sz / epilepsy / yr?

A

sz: 80/100,000
epilepsy: 45/100,000

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2
Q

temporal lobe sz in adults, think what?

A

HSV 1

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3
Q

hsv in newborns vs adults

A

nb: Hsv 2
adult: Hsv 1

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4
Q

eclampsia seizure tx?

A

Magnesium…. then aed

make sure no venous thrombosis

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5
Q

seizures increased with what key meds

6

A

bupoprion, fentanyl, tramadol, lido, baclofen, cefepime

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6
Q

Na hyponatremia w/ concern for seizures?

A

<125

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7
Q

Neurodevelopmental issue in people with mesial temporal sclerosis / temporal lobe epilepsy
Treatment of this?

A

short term memory loss, improved with surgery if failed 3 meds in TLE

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8
Q

Drug that is contraindicated in absence seizures?

A

carbamazepine

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9
Q

Generalized spike and wave discharges evoked by photic?

Dx?

A

JME

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10
Q

Batten’s disease is what? what do you see diagnostically?

A

Neuronal ceroid lipofuscinosis NCLs (Progressive myoclonic epilepsies)
+PAS
curvilinear and fingerprint bodies on EM

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11
Q

epilepsy d/o w/ dramatic / agitated behavior at night during sleep, brief < 1min

A

frontal lobe epilepsy (quick, very agitated and moving, quickly out of it w/o significant postictal state)

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12
Q

epilepsia partialis continua - make sure you look for what?

A

possible brain tumor

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13
Q

fencer posturing in sleep, dx?

A

frontal lobe epilepsy affecting supplementary motor

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14
Q

what type of epilepsy/lesion is associated with people w/ hx of prolonged febrile sz as child?

A

mesial temporal sclerosis / TLE

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15
Q

in TLE, what sx usually ipsilat vs contralat?

A

ipsilat: automatism
contralat: dystonic posturing

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16
Q

type of epilepsy when seizures involved formed hallucinations?

A

parietal lobe, inferior posterior temporal parietal area

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17
Q

seizure length in atypical absence

A

longer than typical (>10sec)

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18
Q

3 spike waves in 1 sec block?

A

Absence 3Hz

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19
Q

Lafora Body disease characterized by what?
How to dx?
EEG?
What chromosome?

A
  1. severe myoclonus
  2. dementia
  3. death by 2nd decade
    Dx w/ skin bx showing lafora body (polyglucosan neuronal inclusions)

Chr 6
EEG w/ prominent occipital spikes/sz, spike/wave d/c

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20
Q

early AM jerks, tonic clonic sz, provoked by alcohol, poor sleep, photic
Dx and Tx

A

JME, VPA

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21
Q

What is Unverricht-Lundborg disease?

A

Progressive myoclonic epilepsy (Baltic myoclonus)

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22
Q

Genetics of Unverricht-Lundborg (((Baltic Myoclonus)
EEG findings
Dx?
Time course distinction

A

AR, Chr 21q22, abnl cystatin gene w/ repeat
EEG w/ background slowing and 3-5Hz, polyspike and wave d/c
Skin bx w/ vacuoles in sweat glands, serum testing

Tends to be more slowly progressive with late cerebellar deterioration

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23
Q

progressive neurologic disorder, ataxia/dementia, vision issues, myoclonus

A

Batten’s Diseases: NCL

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24
Q

Santavuori disease

A

early infantile NCL/Batten’s also w/ microcephaly

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25
Q

Kufs disease?

A

adult Batten / NCL, slower progression, no visual

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26
Q

most common pediatric / juvenile neurodegenerative disorder

genetics/inheritance

A

Spielmeyer Vogt Sjogren (form of Batten)
AR, chr 16
progressive visual loss, myoclonus/ataxia/dementia

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27
Q

late infantile NCL?

Genetics / inheritance

A

Bielschowsky-Jansky dz
AR, Chr 15
Progressive visual loss, myoclonus, severe dementia / ataxia

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28
Q

genetics / inheritance of NCL early infantile form / Santavuori disease

A

AR / Chr 1

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29
Q

MERFF genetics?

A

mitochondrial point mutation for nucleotide pair 8344

MRI w/ leukencephalopathy and cerebellar atrophy

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30
Q

subacute necrotizing encephalomyelopathy?

A

Leighs

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31
Q 
Sialidosis
-enzyme issue
-main characteristics
onset?
sx?
A

alpha neuraminidase def
diffuse cortical atrophy, vacuolar inclusions in liver
Onset adolescent
Cherry red spot / night blindness + loss of color vision, ataxia, severe myoclonus (inducible), photosensitive sz

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32
Q

Enzyme defects for TaySachs and Sandhoff?

A

Taysachs: Hexosaminidase A
Sandhoff: Hexosaminidase A and B

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33
Q

Aicardi synddrome

genetics, clinical sx

A

Xlinked dominant

  • coloboma/chorioretinal lacunae
  • agenesis of cc
  • vertebral abnormalities
  • sz w/ IS, hemiconvulsions
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34
Q

slow spike and wave < 3Hz discharges

Tx (3)

A

Lennox Gastaut

LTG, VPA, VNS

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35
Q

think of what if sensitivity marker is down to 200uV

A

hypssarhythmia

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36
Q

age at which you can see generalized seizures

A

6 mos w/ incr myelin connections between two hemispheres

37
Q

which sz meds particularly bad for decreasing efficacy of OCP?

38
Q

physiology between epilepsy/menstruation?

A

catamenial
-estrogen aggravates seizures
-progesterone protects
w/ mensturation: drop in progest, incr in estrogen

39
Q

WHat AED inhibits p450? (increases other levels)

40
Q

RAte of teratogenicity in women w/ epilepsy

A

double the rate: 4-8% risk

41
Q

Prevention of malformations in pregnant F on AED?

A

Add folate 2mg twice/day (1-4mg/day)

42
Q

AED causing hair loss, wt gain, agranulocytosis, thrombocytopenia

A

VPA (think Homer Simpson: fat / bald)

43
Q

AED drug with some issues w/ sulfa allergy overlap?

A

Zonisamide

44
Q

% of pts who respond to first AED and % sz free after stopping

45
Q

% of pts who are sz free w/ AED#2?

46
Q

% of pts with good response to 3rd AED?

47
Q

Metabolism of dilantin / kinetics issue

A

non linear, hard to manage levels

48
Q

toxic dilantin sx?

A

drunken sailor: ataxia nystagmus, sleepy

49
Q

issues with rapid infusion w/ dilantin?

A

bradycardia / heart block and purple glove (extravasation in veins)

50
Q

AED similar to phenobarbital?

A

Mysoline / Primidone: breaks down to PB and phenylethylmalonamide

51
Q

AED w/ big s/e of pancreatitis, thrombocytopenia

52
Q

AED w/ some stimulant effect

A

Lamotrigine

53
Q

drug good for myoclonic jerks?

A

Clonazepam/Klonopin

54
Q

drug s/e issues in Vigabatrin

A

blue yellow vision loss

concentric visual field alterations (retinal atrophy)

55
Q

% of patients w/ mesial temporal lobe epilepsy who become sz free after temporal lobectomy

56
Q

VNS s/e

A

cough, dyspnea, hoarseness, paresthesia

57
Q

where do olfactory auras come from

A

mesial temporal lobe

58
Q

formed visual auras arise from where compared to unformed simple aura

A

formed: temporal/occipital
unformed: occipital

59
Q

Triad of Lennox Gastaut

A
  1. at least 2 sz types
  2. EEG w/ 1.5-2.5 spike/wave d/c
  3. dev delay
60
Q

2 options for absence sz w/ GTCs

A
  1. vpa

2. lamotrigine

61
Q

Three precipitants for JME sz

A

Jerk More with
Electric light (photoparoxysmal)
Ethanol
Elim of sleep

62
Q

vomiting, tonic eye deviation at night, then hemiclonic activity and generalized convulsin

A

think early onset benign epilepsy of childhood w/ occipital paroxysms or Panayiotopoulos (occipital lobe epilepsy)

63
Q

What do late onset benign epilepsy of childhood w/ occipital paroxysms present as? Called what?
Triggered by what?

A

Gastaut type, starts in adolescence
visual sx w/ secondary generalization (hemianopsia, blindness, halluc, illusions)
triggered by changes in lt intensity, followed by migraine

64
Q

List 5 progressive myoclonic epilepsies?

A
  1. Unverricht Lundborg
  2. Lafora
  3. NCL
  4. Sialidosis
  5. MERRF
65
Q

EM showing granular eosinophilic deposits, curvilinear bodies, fingerprint profiles, rectilinear complexes

A

Neuronal ceroid Lipofuscinoses (NCL)

66
Q

Chromosome for infantile NCL?

67
Q

gene mutated in MERRF?

A

tRNA lysine (Merve has lice)

68
Q

Chromosome for SCN1A and 2A?

69
Q

benign neonatal convulsions are associated with what channel mutation?

A

K

think newborns receive K

70
Q

AED that can cause edema and may worsen myoclonus?

A

gabapentin

71
Q

AED that can cause dupuytren contractures

A

phenobarbital

72
Q

Drug that can cause absence status?

A

tiagabine (Gabitril)

73
Q

AEDs that can prevent tremor?

A

Primidone / Topiramate (Prevent Tremor)

74
Q

3 AEDs elim by kidney not liver system

A
  1. Keppra
  2. gabapentin
  3. vigabatrin
75
Q

3 AED that are voltage gated calcium channel blockers

A

Ethosux, VPA, Zonisamide

76
Q

Protein binding vs nonbinding AEDs

A

protein DOESN’t BIND b/c slippery GLoVE: Gapabentin, LEv, Vigabatrin, Ethosux

BINDING: Very Tight Protein Connection: VPA, Tiagabine, Phenytoin, Carbamazepine

77
Q

potential temporary s/e post-op after corpus callosotomy

A

temporary left limb apraxia

78
Q

antibodies sometimes found in Rasmussen’s Encephalitis

A

Glu R3 receptor antibodies

79
Q

women taking enzyme inducing AEDs who are pregnant are at risk for what, what preventative measure?

A

hemorrhagic dz of newborn: mom should take vit K orally in last month and baby should get vit K IM at birth

80
Q

1.5-2.5 generalized spike/wave

A

lennox gastaut

81
Q

4-6 generalized spike/polyspike and wave discharges

82
Q

WHat dz with neonatal sz, apnea, eye movements like opsoclonus, dd, microcephaly, spasticity, ataxia

What gene
What tx?

A

Gluc 1 transporter def
SLC2A1 gene
Tx keto diet

83
Q

Disease with lethargy, hypotonia, multifocal myoclonus, hiccups, apnea
What tx?

A

NKH (non ketotic hyperglycinemia)

Sodium benzoate, diazepam, dextromethorphan

84
Q

clue for EME vs benign myoclonus in babies

A

myoclonus involves face / eyelids

85
Q

characteristic features of Dravet syndrome

A

ataxia, spasticity, late developmental delay, initially febrile, then afebrile Sz

86
Q

Mutation in Dravet?

87
Q

Diseases that can be caused by SCN1A mutations

A

Dravet, febrile sz, GEFs+

88
Q

Doose vs Dravet

A

Doose Drops

DrAvet: Ataxia

89
Q

Drugs to avoid in Doose syndrome?

A
  1. CBZ
  2. Phenytoin
  3. vigabatrin
90
Q

Sz and giant potentials on VEP, think what dz?

91
Q

eosinophilic inclusions and szs, what dz?

A

Lafora progressive myoclonic epilepsy

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