epilepsy

Question 0

common presenting cause in venous sinus thrombosis?

Answer 0

seizure

Question 1

approximate incidence of sz / epilepsy / yr?

Answer 1

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

Question 2

temporal lobe sz in adults, think what?

Answer 2

HSV 1

Question 3

hsv in newborns vs adults

Answer 3

nb: Hsv 2
adult: Hsv 1

Question 4

eclampsia seizure tx?

Answer 4

Magnesium…. then aed

make sure no venous thrombosis

Question 5

seizures increased with what key meds

6

Answer 5

bupoprion, fentanyl, tramadol, lido, baclofen, cefepime

Question 6

Na hyponatremia w/ concern for seizures?

Answer 6

<125

Question 7

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

Answer 7

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

Question 8

Drug that is contraindicated in absence seizures?

Answer 8

carbamazepine

Question 9

Generalized spike and wave discharges evoked by photic?

Dx?

Answer 9

JME

Question 10

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

Answer 10

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

Question 11

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

Answer 11

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

Question 12

epilepsia partialis continua - make sure you look for what?

Answer 12

possible brain tumor

Question 13

fencer posturing in sleep, dx?

Answer 13

frontal lobe epilepsy affecting supplementary motor

Question 14

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

Answer 14

mesial temporal sclerosis / TLE

Question 15

in TLE, what sx usually ipsilat vs contralat?

Answer 15

ipsilat: automatism
contralat: dystonic posturing

Question 16

type of epilepsy when seizures involved formed hallucinations?

Answer 16

parietal lobe, inferior posterior temporal parietal area

Question 17

seizure length in atypical absence

Answer 17

longer than typical (>10sec)

Question 18

3 spike waves in 1 sec block?

Answer 18

Absence 3Hz

Question 19

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

Answer 19

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

Question 20

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

Answer 20

JME, VPA

Question 21

What is Unverricht-Lundborg disease?

Answer 21

Progressive myoclonic epilepsy (Baltic myoclonus)

Question 22

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

Answer 22

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

Question 23

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

Answer 23

Batten’s Diseases: NCL

Question 24

Santavuori disease

Answer 24

early infantile NCL/Batten's also w/ microcephaly

Question 25

Kufs disease?

Answer 25

adult Batten / NCL, slower progression, no visual

Question 26

most common pediatric / juvenile neurodegenerative disorder | genetics/inheritance

Answer 26

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

Question 27

late infantile NCL? | Genetics / inheritance

Answer 27

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

Question 28

genetics / inheritance of NCL early infantile form / Santavuori disease

Answer 28

AR / Chr 1

Question 29

MERFF genetics?

Answer 29

mitochondrial point mutation for nucleotide pair 8344 | MRI w/ leukencephalopathy and cerebellar atrophy

Question 30

subacute necrotizing encephalomyelopathy?

Answer 30

Leighs

Question 31

``` Sialidosis -enzyme issue -main characteristics onset? sx? ```

Answer 31

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

Question 32

Enzyme defects for TaySachs and Sandhoff?

Answer 32

Taysachs: Hexosaminidase A Sandhoff: Hexosaminidase A and B

Question 33

Aicardi synddrome | genetics, clinical sx

Answer 33

Xlinked dominant - coloboma/chorioretinal lacunae - agenesis of cc - vertebral abnormalities - sz w/ IS, hemiconvulsions

Question 34

slow spike and wave < 3Hz discharges | Tx (3)

Answer 34

Lennox Gastaut | LTG, VPA, VNS

Question 35

think of what if sensitivity marker is down to 200uV

Answer 35

hypssarhythmia

Question 36

age at which you can see generalized seizures

Answer 36

6 mos w/ incr myelin connections between two hemispheres

Question 37

which sz meds particularly bad for decreasing efficacy of OCP?

Answer 37

phenytoin

Question 38

physiology between epilepsy/menstruation?

Answer 38

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

Question 39

WHat AED inhibits p450? (increases other levels)

Answer 39

VPA

Question 40

RAte of teratogenicity in women w/ epilepsy

Answer 40

double the rate: 4-8% risk

Question 41

Prevention of malformations in pregnant F on AED?

Answer 41

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

Question 42

AED causing hair loss, wt gain, agranulocytosis, thrombocytopenia

Answer 42

VPA (think Homer Simpson: fat / bald)

Question 43

AED drug with some issues w/ sulfa allergy overlap?

Answer 43

Zonisamide

Question 44

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

Answer 44

50%, 3%

Question 45

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

Answer 45

10-15%

Question 46

% of pts with good response to 3rd AED?

Answer 46

<5%

Question 47

Metabolism of dilantin / kinetics issue

Answer 47

non linear, hard to manage levels

Question 48

toxic dilantin sx?

Answer 48

drunken sailor: ataxia nystagmus, sleepy

Question 49

issues with rapid infusion w/ dilantin?

Answer 49

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

Question 50

AED similar to phenobarbital?

Answer 50

Mysoline / Primidone: breaks down to PB and phenylethylmalonamide

Question 51

AED w/ big s/e of pancreatitis, thrombocytopenia

Answer 51

VPA

Question 52

AED w/ some stimulant effect

Answer 52

Lamotrigine

Question 53

drug good for myoclonic jerks?

Answer 53

Clonazepam/Klonopin

Question 54

drug s/e issues in Vigabatrin

Answer 54

blue yellow vision loss | concentric visual field alterations (retinal atrophy)

Question 55

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

Answer 55

2/3

Question 56

VNS s/e

Answer 56

cough, dyspnea, hoarseness, paresthesia

Question 57

where do olfactory auras come from

Answer 57

mesial temporal lobe

Question 58

formed visual auras arise from where compared to unformed simple aura

Answer 58

formed: temporal/occipital unformed: occipital

Question 59

Triad of Lennox Gastaut

Answer 59

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

Question 60

2 options for absence sz w/ GTCs

Answer 60

1. vpa | 2. lamotrigine

Question 61

Three precipitants for JME sz

Answer 61

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

Question 62

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

Answer 62

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

Question 63

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

Answer 63

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

Question 64

List 5 progressive myoclonic epilepsies?

Answer 64

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

Question 65

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

Answer 65

Neuronal ceroid Lipofuscinoses (NCL)

Question 66

Chromosome for infantile NCL?

Answer 66

Chr 1p32

Question 67

gene mutated in MERRF?

Answer 67

tRNA lysine (Merve has lice)

Question 68

Chromosome for SCN1A and 2A?

Answer 68

Chr 2q24

Question 69

benign neonatal convulsions are associated with what channel mutation?

Answer 69

K | think newborns receive K

Question 70

AED that can cause edema and may worsen myoclonus?

Answer 70

gabapentin

Question 71

AED that can cause dupuytren contractures

Answer 71

phenobarbital

Question 72

Drug that can cause absence status?

Answer 72

tiagabine (Gabitril)

Question 73

AEDs that can prevent tremor?

Answer 73

Primidone / Topiramate (Prevent Tremor)

Question 74

3 AEDs elim by kidney not liver system

Answer 74

1. Keppra 2. gabapentin 3. vigabatrin

Question 75

3 AED that are voltage gated calcium channel blockers

Answer 75

Ethosux, VPA, Zonisamide

Question 76

Protein binding vs nonbinding AEDs

Answer 76

protein DOESN't BIND b/c slippery GLoVE: Gapabentin, LEv, Vigabatrin, Ethosux BINDING: Very Tight Protein Connection: VPA, Tiagabine, Phenytoin, Carbamazepine

Question 77

potential temporary s/e post-op after corpus callosotomy

Answer 77

temporary left limb apraxia

Question 78

antibodies sometimes found in Rasmussen's Encephalitis

Answer 78

Glu R3 receptor antibodies

Question 79

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

Answer 79

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

Question 80

1.5-2.5 generalized spike/wave

Answer 80

lennox gastaut

Question 81

4-6 generalized spike/polyspike and wave discharges

Answer 81

JME

Question 82

WHat dz with neonatal sz, apnea, eye movements like opsoclonus, dd, microcephaly, spasticity, ataxia What gene What tx?

Answer 82

Gluc 1 transporter def SLC2A1 gene Tx keto diet

Question 83

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

Answer 83

NKH (non ketotic hyperglycinemia) | Sodium benzoate, diazepam, dextromethorphan

Question 84

clue for EME vs benign myoclonus in babies

Answer 84

myoclonus involves face / eyelids

Question 85

characteristic features of Dravet syndrome

Answer 85

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

Question 86

Mutation in Dravet?

Answer 86

SCN1A

Question 87

Diseases that can be caused by SCN1A mutations

Answer 87

Dravet, febrile sz, GEFs+

Question 88

Doose vs Dravet

Answer 88

Doose Drops | DrAvet: Ataxia

Question 89

Drugs to avoid in Doose syndrome?

Answer 89

1. CBZ 2. Phenytoin 3. vigabatrin

Question 90

Sz and giant potentials on VEP, think what dz?

Answer 90

NCL

Question 91

eosinophilic inclusions and szs, what dz?

Answer 91

Lafora progressive myoclonic epilepsy