PD 5 - Cerebrale ontwikkeling en plasticiteit Flashcards

1
Q

Syndroom van Davet

A
  • Gain of function / loss of function mutatiesGain
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Gain of function

A

Mutaties in Na-kanalen leiden tot een verhoogde prikkelbaarheid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Loss of function

A

Verminderde prikkelbaarheid maar er treden mutaties op in Na kanalen die tot expressie komen in remmende interneuronen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly