Epilepsy Mutations Flashcards Preview

Neuropsychopharmacology > Epilepsy Mutations > Flashcards

Flashcards in Epilepsy Mutations Deck (33)
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1
Q

What is a mis-sense mutation?

A

A change in one amino acid

2
Q

What is a non-sense mutation?

A

Change causes a stop codon and truncated protein

3
Q

What can frame shift do?

A

change the sequence or cause a stop codon

4
Q

What happens in y+/- mice?

A

increase anxiety

5
Q

What are the degrees of folding?

A

1
2
3

6
Q

What are the forms of processing protein folding?

A

protein glycosylation
disulphide bond formation
protein folding and oligomerisation

7
Q

What are the chaperone proteins involved with tertiary and quaternary structure folding?

A

BiP - kinda immature form

Calnexin - most immature form

8
Q

How are disulphide bonds monitored?

A

PDI

9
Q

Where does BiP bind on the protein?

A

hydrophobic domain

10
Q

What is the R43Q mutation?

A

a mutation in receptor biogenesis with y subunit

11
Q

Which a subunit mutation causes instability?

A

A322D

12
Q

What does R43 do?

A

forms inter-subunit contacts

13
Q

What is the lack of interaction in R43?

A

between a1 and b2

b2 and y2

14
Q

What is the epilepsy mutation?

A

y2 with b2 interactions cause a problem with receptor conformation

15
Q

What does dynasor show?

A

that the mutant receptors are internalised in clatharin coated vesicles

16
Q

What other mutations show poor assembly?

A

R82Q and P83S

17
Q

What is the disturbance caused by the R177G mutation?

A

incorporation of y2 seems to reduce density and cause subunits to be retained in ER and degraded

18
Q

What mutation is associated with Dravet syndrome?

A

Q351X

19
Q

What are Na channels involved with in epilepsy?

A

Generalised with febrile seizures in children

B1 in Australian GEFS

20
Q

What are K channels involved with in epilepsy?

A

Episodic ataxia - type 1

21
Q

What are the mutations associated with K channel epilepsy?

A

missense

22
Q

What are the different types of channel in K channel epilepsy?

A

4 inactive
1 slow activating
1 rapid inactivating

23
Q

What are Ca channels involved in?

A

Migraine - more females than males

24
Q

What are symptoms of migraine?

A

headache
nausea
vomiting
sensitivity to light and noise

25
Q

What is familial hemiplagic migraine?

A

paralyses to half body
progressive cerebellar atrophy
a1A

26
Q

What is Episodic Ataxia?

A

intermittent cerebellar ataxia
migrain
cerebellar atrophy
all precipitated by stress

27
Q

What are the mutations with episodic ataxia?

A

frameshift or substitution

28
Q

What is spinocerebellar ataxia?

A

slow progressive cerebellar ataxia
nystagmus
proprioceptive sensory loss
severe neuronal loss in cerebellum

29
Q

What are the a1 subunit mouse mutants?

A

tottering

leaner

30
Q

What are the b subunit mouse mutants?

A

lethargic mice

31
Q

What are the y subunit mouse mutants?

A

stargazer mice

32
Q

What is rasmussens encephalitis?

A
progressive single cerebral epilepsy
severe
hemiplagia
dementia
brain inflammation
33
Q

What is occuring in Rasmussens?

A

increase AMPAR -> excitotoxicity