channelopathies

Question 1

definition of channelopathy?

Answer 1

ion channel dysfunction. can be genetic, toxins, autoantibodies…

Question 2

mutations can occur in genes for?

Answer 2

ligand gated and voltage gated ion channels, enzymes, transporters

Question 3

symptoms of hyperekplexia?

Answer 3

muscle spasm in response to unexpected stimuli
become rigid and fall over.
increased infant muscle tone

Question 4

genetics of hyperekplexia?

Answer 4

autosomal dominant, genetic linkage chromosome 5q32, point mutation R271Q in GLRA1

Question 5

symptoms of generalised epilepsy with febrile seizures?

Answer 5

convulsions, fever, many develop epilepsy later in life

Question 6

genetics of generalised epilepsy with febrile seizures?

Answer 6

autosomal dominant, linkage chromosome 19q13.1, point mutation C121W

Question 7

symptoms of benign familial neonatal seizures?

Answer 7

recurrent seizures in early life, resolves spontaneously within three months

Question 8

genetics of benign familial neonatal seizures?

Answer 8

linkage 20q13.3, frameshift mutation, 300 amino acid deletion. non functional potassium channel from one allele