Channelopathies

Question 1

Na Channelopathy; Slowed inactivation of sodium channels

Answer 1

Generalized epilepsy with febrile seizures (GEFS)

Question 2

Na Channelopathy; Both caused by mutations in skeletal muscle

Answer 2

Congenital paramyotonia and Periodic paralysis

Question 3

Ca Channelopathy; associated with mutation of P/Q-type Ca2+ channel CaV2.2

Answer 3

Familial hemiplegic migraine (FHM)

Question 4

Ca channelopathy; caused by truncated mutants of CaV2.2 channel

Answer 4

Episodic ataxia type 2

Question 5

Ca Channelopathy; due to truncated L-type Ca2+ channels in retina (CaV1.4)

Answer 5

Congenital Stationary night blindness

Question 6

Ca Channelopathy; due to small cell carcinomas producing abs to voltage gated Ca2+ channels

Answer 6

Lambert Eaton syndrome

Question 7

K channelopathy; due to mutation of KCNQ2 gene encoding voltage-gated K+ channel

Answer 7

Benign familial neonatal seizures

Question 8

K channelopathy; due to mutation in Kv1.1 type K+ channels in Purkinje cells

Answer 8

Episodic ataxia type 1