lecture 10 Flashcards
1
Q
What is episodic ataxia type 1 and how can it be treated?
A
mutation in KCNA1 found in NMJ and cerebellum
use sodium channel blockers to prevent inappropriate firing
acetazolamide- carbonic anhydrase inhibitor
2
Q
what is episodic ataxia type 2?
A
mutation in CACNA1A channels found in purkinje, cerebellum
P/Q type are mutated
required for NT release- problems with skeletal muscle control
3
Q
how many people does epilepsy effect?
A
1/100 children in the UK- 0.5 to 1% of the population
4
Q
How can epilepsy be acquired?
A
brain trauma, damage, tumour, infection each of which change ion channels in response to damage
5
Q
What is erythromelalgia?
A
Gain of pain- gain of function NAv1.7
