Epilepsy CC1 Flashcards

1
Q

partial (focal) seizure involves

A

1 hemisphere

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2
Q

generalized (global) seizure involves

A

both hemispheres

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3
Q

simple partial means

A
  1. no LOC
  2. single hemisphere
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4
Q

complex partial means

A
  1. impairment of conciousness, but can still be awake
  2. single hemisphere
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5
Q

secondarily generalized means

A

starts partial, then becomes generalized

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6
Q

where do generalzied seizures start?

A

in subcortical structures

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7
Q

abscense seizures involve

A

loss of consciousness without motor
symptoms.

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8
Q

tonic generlized seizures involves

A

sustained contraction of muscles

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9
Q

clonic seizures involve

A

repetitive movements (like shaking)

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10
Q

tonic clonic seizures involve

A

start as tonic, then become clonic

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11
Q

atonic seizures involve

A

negative sx, loss of muscle tone

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12
Q

how do you distinguish between complex partial seizure and abscence seizure?

A

eeg

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13
Q

subtypes of generalized seizures

A
  1. abscence
  2. tonic
  3. clonic
  4. tonic-clonic
  5. atonic
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14
Q

what is epilepsy

A

the enduring predisposition to generate epileptic seizures

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15
Q

idiotpathic seizures are usually

A

genetic

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16
Q

what can cause epileptic channelopathies

A

mutations in voltage gated ion channels, can cause gain or loss of function

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17
Q

what is the inheritance pattern of channelpathies?

what kind of mutations are they mostly?

A

most are autonosomal dominant

mostly de novo

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18
Q

when do febrile seizures occur

A

occurring in childhood after 1 month of age

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19
Q

what are febrile seizures associated with?

A

associated with a febrile illness not caused by CNS infection

no hx of previous seizures & not acutely symptomatic

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20
Q

febrile seizure is a ___ channelopathy

A

Na 1.1

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21
Q

Generalized Epilepsy with Febrile Seizures Plus invovles mutations in

A

SCN1B or SCN1A

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22
Q

with Generalized Epilepsy with Febrile Seizures Plus you get a loss of

A

loss of fast inactivation –> Na channel gain
of function –> persistent Na current

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23
Q

with Severe Myoclonic Epilepsy of Infancy you get a loss of

A
loss of high frequency action potential --\> loss of inhibitory
 function of GABAergic cortical interneurons & Pukinje cells --\> seizures & ataxia
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24
Q

signs of Severe Myoclonic Epilepsy of Infancy in first year?

A

seizures associated with high body temp (fever, bathing) –>
seizures get progressively prolonged and cluster

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25
Q

what are the signs of Severe Myoclonic Epilepsy of Infancy?

A

show psychomotor delay, ataxia, cognitive impairment

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26
Q

what is the range of severity of Na 1.1 channelpathies?

A
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27
Q

sx of Benign Familial Neonatal Convulsion

A

brief generalized and partial seizures that usual resolve by age 6 weeks

28
Q

K Channelopathies in Epilepsy invovles loss of function of what receptor?

A

Loss of Function from mutations in Kv7.2 and Kv7.3

29
Q

K Channelopathies in Epilepsy involve gain of function from

A

mutation in the pore-forming subunit

30
Q

KCNMA1) encodes

A

the pore formiung suybunit involved in generalized epilepsy & paroxysmal dyskinesia

31
Q

what does loss of K poreforming subunit result in?

A

–> increased K flux –> generalized epilepsy & paroxysmal dyskinesia

32
Q

Ca and Cl Channelopathies in Epilepsy Both can lead to

A

idiopathic generalized epilepsy

33
Q

Mutations in CLCN2 –> results in

A

↓ Cl gradient, less GABAergic hyperpolarization

34
Q

Antiepileptic drugs decrease the ___ of neurons

A

hyper-excitability

35
Q

2 mechanism in which antielipetic drugs work?

A
  1. block Na channels
  2. increase inhibitory neurons via GABA
36
Q

wjhat regulates the function of Na and Ca channels?

A

B subuniots

37
Q

describe the general structure of Na and Ca channels

A

6 membrane spanning regions x 4

38
Q

describe the general structure of K+ channels

A

6,2,4,7 membrane spanning regions

39
Q

with a seizure…

abnormal excessive and synchornous electrical discharges of brain neuronal network leads to

A

paroxysmal events characterized by clinical signs or sx

40
Q

ictal refers to

A

seizure period or events due to seizure

41
Q

aura is ictal or preictal?

A

ictal

42
Q

prodrome is precital or ictal?

A

preictal

43
Q

variations of simple partial seizures?

A

with:

  1. motor signs
  2. with somatosensory sx
  3. ANS sx
  4. psychic sx
44
Q

ILAE classification divides seizure into

A

idiopathic, symptomatic, cryptogenic

45
Q

first division of ILAE classification is?

second division?

A

first – localization vs. generalized

second – idiopathic, cryptogenic, etc

46
Q

where are Na 1.1 and Na 1.3 found

A

in cell bodies

47
Q

where are Na 1.2 found

A

unmyelinated axons and dendrites

48
Q

where are Na 1.6 found

A

myelinated axons and dendrites

49
Q

what leads to ataxia with SMEI?

A

loss of high frequency ap –> loss of inhibitory gaba purkinje cells

50
Q

what is the pathophysiology of seizures with SMEI?

A

loss of high frequency AP —> loss of inhibiotry function of gabaeric cortical interneurons –> seizures

51
Q

to tx SMEI you have to reestablish

A

gabergic transmission

52
Q

two drugs for SMEI?

A

tiagabine (dec gaba reuptake)

benzos (inc response of post synaptic gaba)

53
Q

how do benzos work for SMEI?

A

inc response of post synaptic gaba

54
Q

how does tiagabine work for SMEI?

A

dec reuptake of GABA

55
Q

SCN mutations (causing Febrile plus) are usually ___ mutations

A

missense

56
Q

tx of febrile plus involves

A

antipletpic meds that potentially bind tommutant channels and stabilize folding of proteins

57
Q

mutations in Na 1.1 causing febrile seizures usually results in what two things?

A
  1. reudction of peak na current
  2. positive shift in voltage dependece of activation
58
Q

K channelpathies mostly invovle cells with __ current

A

M current (close to resting ptoential and is regualted by msucarnic and other g protein)

59
Q

disorder assocaited with decreased m current

A

benigin familar neonatal convulsion

60
Q

describe Cl channels

A

12 transmembrane segments

61
Q

mutations in the CLCN2 gene can lead to

A

idiopathic generalzied epilepsy

62
Q

result of gain of function of Ca channels

A

excessive snchonous rhytmic burst firing –> idiopathic generalized epilepsy

63
Q

t type ca channels are notable because they

A

ave rhythmic burst firing

64
Q

are all seizures channelopathies?

A

no!

65
Q

surgery should be considered in ___ epilepsy

A

localization realted epilepsy that does not respond to 2 medications

66
Q

how do AEDS stabilize or block Na channels

A

they prolong the inactive states