CC 1: Epilepsy Flashcards

1
Q

What is the main function of ion channels?

A

Allows for selective permeability

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2
Q

What is the definition of a seizure?

A

Abnormal excessive and synchronous electrical discharges of brain neuronal network that are characterized by clinical signs/ syptoms

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3
Q

What is Aura?

A

Part of the ictal (part of the seizure), it is short in length/ time and hard to describe.

It is adistinctive feeling or some other warning sign when a seizure is coming—different from person to person.

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4
Q

What is a prodrome?

A

This is a pre-ictal phase.

This is the time before the seizure. It can last from minutes to days and make people
act and feel differently.

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5
Q

What is the ictal phase?

A

It is the seizure period

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6
Q

What is the interical phase?

A

this is the time between seizures

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7
Q

What is the post ictal phase?

A

altered state of consciousness after a seizure

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8
Q

What are the two main types of seizures?

A

Partial (focal) and generalized

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9
Q

Which type of seizure includes both hemispheres?

A

A generalized seizure

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10
Q

What are the two types of generalized seizures?

A

Convulsive and non-convulsive

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11
Q

What are the two types of partial seizures?

A

Simple partial and complex partial

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12
Q

What is the definition of a simple partial seizure?

A

No impaired consiousness

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13
Q

What is the definition of a complex partial seizure?

A

Impaired consiousness

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14
Q

What is a secondary generalized seizure?

A

A seizure that started out as partial and then became generalized

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15
Q

What is epilepsy?

A

A disease of the brain characterized by enduring predisposition to generate epileptic seizures.

It is a complex of clinical features, signs and symptoms that together define a distinctive, recognizable clinical disorder.

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16
Q

What is the most likely cause of an idiopathic epileptic condition?

A

Genetic cause

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17
Q

What is the most likely cause of a crytogenic epileptic condition?

A

Unknown cause

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18
Q

What is the most likely cause of a symptomatic epileptic condition?

A

Known CNS cause

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19
Q

What is the definition of an epileptic channelopathy?

A

Lowered seizure threshold based on a mutation causing changes in the current carried by the channel. Can either be a gain of function/ enhanced or loss of function/ reduced

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20
Q

True or False:

Autosomal recessive and de novo mutations

A

False. Rarely autosomal recessive….they are usually autosomal dominent.

21
Q

In Na channelopathies, what subunit is usually effected?

A

Alpha subunit

22
Q

Where are the following channels usually found:

Na 1.1 channels?
Na 1.3 channels?
Na 1.2 channels?
Na 1.6 channels?

A

Na 1.1 and Na 1.3 are found in cell bodies of neurons

Na 1.2 are found in unmyelinated azons and dendrites

Na 1.6 channels are found in myelinated axons and dendrites

23
Q

When does Severe Myoclonic Epilepsy of Infancy (SMEI) usually occur?

A

During the 1st year of life

24
Q

What is the typical presentation of SMEI?

A

Febrile seizures that occur in progressively longer clusters. Eventually an epileptic status occurs. Psychomotor delays occur and there is eventually ataxia and cognitive impairment

25
Q

What is the pathological cause of SMEI?

A

Reduced Na channel density

26
Q

In SMEI, what does the reduction of Na channel densitiy lead to?

A

It leads to a loss of high frequency AP which leads to loss of inhibitory function of GABA in interneurons and Purkinje cells.

This eventually leads to seiure and ataxia

27
Q

What is the treatment for SMEI?

A

Drugs to reduce the uptake of GABA and increase the response of post synaptic GABA receptors.

Examples: Tiagabine and Benzodiazepines

28
Q

What is Generalized Epilepsy with Febrile Seizures + (GEFS+)?

A

This is a condition similar to SMEI, but it is milders. There is usually no cognitive impairment.

This is usually a familial condition.

29
Q

What is the pathology of GEFS+?

A

It is a mutation that leads to a loss of function of fast inactivation, which leads to a gain of functionof Na channels because they are open longer (a persistent Na current)

30
Q

What is the treatment for GEFS+?

A

Antiepileptic medications

31
Q

How are febrile seizures defined?

A

1- Seizures occuring in childhood after 1 month of age

2- associated with febrile illness but NOT cause by an infection of the CNS

3- No history of neonatal seizures or unprovoked seizures

4- The seizure fit no other criteria

32
Q

What type of channelopathy causes febrile seizures?

A

A mutation in the NA 1.1 channel. This reduces the peak Na current.

33
Q

What channels are effected in K channelopathies?

A

Usually K 7.2 and K 7.3

34
Q

What are M currents?

A

Close to resting potential and is regulated by M receptors and other G coupled receptors

35
Q

Where are K 7.2 and K 7.3 channels typically found?

A

in cells with M currents

36
Q

What would a missense mutation cause in a K+ channel? What disease would this cause?

A

impaired influx of K+
decreased M current

Benign familial Neonatal Convulsion

37
Q

How long does Benign Familial Neonatal Conculsion usually last?

A

6 weeks

38
Q

What is two pore forming mutation K channelopathies?

A

Generalized Epilepsy

Paroxysmal Dyskinensia

39
Q

What does a pore forming mutation do?

A

larger K+ influx (gain of function)

40
Q

What is the most common type of Ca channel to have a channelopathy?

A

T-type Ca channels

41
Q

Where are T type channels located mainly?

A

In thalamic cells

42
Q

What are the three subtypes of T type Ca cahnnels?

A

Ca 3.1, Ca 3.2, Ca 3.3

43
Q

What type of mutation is commonly associated with Ca channelopathies?

A

Gain of function mutation that leads to excessive synchronous rhythmic burst

44
Q

What is a major clinical Ca channelopathy?

A

Idiopathic Generalized Epilepsy

45
Q

What is a major clinical Chloride channelopathy?

A

Idiopathic Generalized Epilepsy

46
Q

Why is the Chloride gradient so important

A

Maintenance of the Chloride gradient is needed for GABAergic synapse hyperpolarization

47
Q

What do antiepileptic drungs do?

A

Decrease the hyperexcitability of neurons . They are generally Na channel blockers and increase the inhibitory function of neurons

48
Q

Are antiepileptic drugs the only treatment for epilepsy?

A

No, there is also Epilepsy syrgery if there is a failure to respond to 2 medications