Channelopathies

Question 1

Generalized epilepsy with febrile sickness

Answer 1

decrease inactivation of NA channels –> inc. excitability

Question 2

Na channel mutation in skeletal muscle

Answer 2

Myotonia/paralysis

Question 3

Familial hemiplegic migrane

Answer 3

mut in P/Q Ca channel

Question 4

Episodic Ataxia Type 2

Answer 4

Ca channel

Question 5

Congenital stationary night blindness

Answer 5

truncated L-type Ca channels

Question 6

Lambert Eaton Syndrome

Answer 6

Auto-Abs to pre-synaptic Ca channes –> no vesicle fusion –> no Ach
- from small cell lung cancer

Question 7

Cl channel Myotonia

Answer 7

increased excitability of muscle

more + resting potential

Question 8

Episodic Ataxia Type 1

Answer 8

mutated K channels in Purkinje Cells

Question 9

Benign Familial Neonatal Seizures

Answer 9

mutation coding VG K channel

Question 10

Myasthenia gravis

Answer 10

Abs against AcH receptor in NMJ

Question 11

Botulism

Answer 11

SNARE disorder

- cleave SNAP25 –> decrease AcH –> flacid paralysis

Question 12

Tetanus

Answer 12

SNARE disorder

- cleave synaptobrevin –> targeting GABAergic transmission –> no inh. signal –> tetanus