channelopathies_flashcards_brainscape
What are channelopathies? Diseases caused by ion channel dysfunction. Can be genetic (usually autosomal dominant) or acquired. Most often caused by mutations in ion channel-encoding genes. Affects nervous
cardiovascular
What types of ion channels can be involved in channelopathies? Not just voltage-gated channels; also includes ligand-gated channels
gap junctions
What are some molecular mechanisms that cause ion channel dysfunction? Not just mutations; also includes trafficking defects
improper membrane insertion
What is phenotypic convergence in channelopathies? Different channel mutations result in the same disease or symptoms.
What is phenotypic divergence in channelopathies? Different mutations in the same channel gene cause different symptoms or diseases.
What are examples of nervous system disorders caused by channelopathies? Epilepsy
migraine
Which gene is mutated in Episodic Ataxia Type 1 (EA1)? KCNA1
What channel is affected in EA1? KV1.1 (voltage-gated K+ channel)
What type of mutation is typically found in EA1? Loss-of-function missense mutations.
What are symptoms of EA1? Interictal myokymia
episodic cerebellar incoordination
Which gene is mutated in Hyperkalemic Periodic Paralysis (HyKPP)? SCN4A
What channel is affected in HyKPP? NaV1.4 (voltage-gated Na+ channel)
What kind of mutation occurs in HyKPP? Gain-of-function mutations.
What are symptoms of HyKPP? Flaccid paralysis
triggered by potassium-rich foods
Which gene is mutated in Genetic Epilepsy with Febrile Seizures Plus (GEFS+)? SCN1A
What channel is affected in GEFS+? NaV1.1 (voltage-gated Na+ channel)
What kind of mutation occurs in GEFS+? Loss-of-function mutations.
What are symptoms of GEFS+? Febrile seizures <6 months of age
afebrile seizures
Which gene is mutated in Familial Hemiplegic Migraine Type 1 (FHM1)? CACNA1A
What channel is affected in FHM1? CaV2.1 (P/Q-type voltage-gated Ca2+ channel)
What kind of mutation occurs in FHM1? Gain-of-function mutations.
What are symptoms of FHM1? Migraine with aura
hemiplegia
