Epilepsy CC1

Question 1

partial (focal) seizure involves

Answer 1

1 hemisphere

Question 2

generalized (global) seizure involves

Answer 2

both hemispheres

Question 3

simple partial means

Answer 3

1. no LOC
2. single hemisphere

Question 4

complex partial means

Answer 4

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

Question 5

secondarily generalized means

Answer 5

starts partial, then becomes generalized

Question 6

where do generalzied seizures start?

Answer 6

in subcortical structures

Question 7

abscense seizures involve

Answer 7

loss of consciousness without motor
symptoms.

Question 8

tonic generlized seizures involves

Answer 8

sustained contraction of muscles

Question 9

clonic seizures involve

Answer 9

repetitive movements (like shaking)

Question 10

tonic clonic seizures involve

Answer 10

start as tonic, then become clonic

Question 11

atonic seizures involve

Answer 11

negative sx, loss of muscle tone

Question 12

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

Answer 12

eeg

Question 13

subtypes of generalized seizures

Answer 13

1. abscence
2. tonic
3. clonic
4. tonic-clonic
5. atonic

Question 14

what is epilepsy

Answer 14

the enduring predisposition to generate epileptic seizures

Question 15

idiotpathic seizures are usually

Answer 15

genetic

Question 16

what can cause epileptic channelopathies

Answer 16

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

Question 17

what is the inheritance pattern of channelpathies?

what kind of mutations are they mostly?

Answer 17

most are autonosomal dominant

mostly de novo

Question 18

when do febrile seizures occur

Answer 18

occurring in childhood after 1 month of age

Question 19

what are febrile seizures associated with?

Answer 19

associated with a febrile illness not caused by CNS infection

no hx of previous seizures & not acutely symptomatic

Question 20

febrile seizure is a ___ channelopathy

Answer 20

Na 1.1

Question 21

Generalized Epilepsy with Febrile Seizures Plus invovles mutations in

Answer 21

SCN1B or SCN1A

Question 22

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

Answer 22

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

Question 23

with Severe Myoclonic Epilepsy of Infancy you get a loss of

Answer 23

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

Question 24

signs of Severe Myoclonic Epilepsy of Infancy in first year?

Answer 24

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

Question 25

what are the signs of Severe Myoclonic Epilepsy of Infancy?

Answer 25

show psychomotor delay, ataxia, cognitive impairment

Question 26

what is the range of severity of Na 1.1 channelpathies?

Answer 26

Question 27

sx of Benign Familial Neonatal Convulsion

Answer 27

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

Question 28

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

Answer 28

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

Question 29

K Channelopathies in Epilepsy involve gain of function from

Answer 29

mutation in the pore-forming subunit

Question 30

KCNMA1) encodes

Answer 30

the pore formiung suybunit involved in generalized epilepsy & paroxysmal dyskinesia

Question 31

what does loss of K poreforming subunit result in?

Answer 31

--\> increased K flux --\> generalized epilepsy & paroxysmal dyskinesia

Question 32

Ca and Cl Channelopathies in Epilepsy Both can lead to

Answer 32

idiopathic generalized epilepsy

Question 33

Mutations in CLCN2 --\> results in

Answer 33

↓ Cl gradient, less GABAergic hyperpolarization

Question 34

Antiepileptic drugs decrease the ___ of neurons

Answer 34

hyper-excitability

Question 35

2 mechanism in which antielipetic drugs work?

Answer 35

1. block Na channels 2. increase inhibitory neurons via GABA

Question 36

wjhat regulates the function of **_Na and Ca_** channels?

Answer 36

B subuniots

Question 37

describe the general structure of Na and Ca channels

Answer 37

6 membrane spanning regions x 4

Question 38

describe the general structure of K+ channels

Answer 38

6,2,4,7 membrane spanning regions

Question 39

with a seizure... abnormal excessive and synchornous electrical discharges of brain neuronal network leads to

Answer 39

paroxysmal events characterized by clinical signs or sx

Question 40

ictal refers to

Answer 40

seizure period or events due to seizure

Question 41

aura is ictal or preictal?

Answer 41

ictal

Question 42

prodrome is precital or ictal?

Answer 42

preictal

Question 43

variations of **_simple partial seizures?_**

Answer 43

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

Question 44

ILAE classification divides seizure into

Answer 44

idiopathic, symptomatic, cryptogenic

Question 45

first division of ILAE classification is? second division?

Answer 45

first -- localization vs. generalized second -- idiopathic, cryptogenic, etc

Question 46

where are Na 1.1 and Na 1.3 found

Answer 46

in cell bodies

Question 47

where are Na 1.2 found

Answer 47

unmyelinated axons and dendrites

Question 48

where are Na 1.6 found

Answer 48

myelinated axons and dendrites

Question 49

what leads to ataxia with SMEI?

Answer 49

loss of high frequency ap --\> loss of inhibitory gaba purkinje cells

Question 50

what is the pathophysiology of seizures with SMEI?

Answer 50

loss of high frequency AP ---\> loss of inhibiotry function of gabaeric cortical interneurons --\> seizures

Question 51

to tx SMEI you have to reestablish

Answer 51

gabergic transmission

Question 52

two drugs for SMEI?

Answer 52

tiagabine (dec gaba reuptake) benzos (inc response of post synaptic gaba)

Question 53

how do benzos work for SMEI?

Answer 53

inc response of post synaptic gaba

Question 54

how does tiagabine work for SMEI?

Answer 54

dec reuptake of GABA

Question 55

SCN mutations (causing Febrile plus) are usually ___ mutations

Answer 55

missense

Question 56

tx of febrile plus involves

Answer 56

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

Question 57

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

Answer 57

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

Question 58

K channelpathies mostly invovle cells with __ current

Answer 58

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

Question 59

disorder assocaited with decreased m current

Answer 59

benigin familar neonatal convulsion

Question 60

describe Cl channels

Answer 60

12 transmembrane segments

Question 61

mutations in the CLCN2 gene can lead to

Answer 61

idiopathic generalzied epilepsy

Question 62

result of gain of function of Ca channels

Answer 62

excessive snchonous rhytmic burst firing --\> idiopathic generalized epilepsy

Question 63

t type ca channels are notable because they

Answer 63

ave rhythmic burst firing

Question 64

are all seizures channelopathies?

Answer 64

no!

Question 65

surgery should be considered in ___ epilepsy

Answer 65

localization realted epilepsy that does not respond to 2 medications

Question 66

how do AEDS stabilize or block Na channels

Answer 66

they prolong the inactive states