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1. Introduction
2. Talk outline
3. 1. What are channelopathies?
4. 2. Framework for thinking about channelopathies
5. Central dogma of molecular biology (extended)
6. Relationship between genotype and phenotype
7. Example 1 - human beta-globin gene
8. Example 2 - P/Q Ca2+ channel gene (CACNA1A)
9. Example 3 - CACNA1A roles in different cell types
10. Example 4 - Protein modulates other gene product
11. Factors governing genotype-phenotype relationship
12. The functional link between genotype & phenotype
13. 3. Ion channelopathies
14. Classification based on clinical disorder
15. Classification can be related to channel structure
16. Characterization of permeation and gating
17. Classification based on permeation and gating
18. 4. Voltage-gated Ca2+ channels
19. Functional domains of the Ca2+ channel subunits
20. Voltage-gated Ca2+ channel alpha1 mutations
21. 5. Human P/Q Ca2+ channelopathies
22. Episodic Ataxia Type 2 (EA2)
23. Human EA2 mutation F1491S
24. Familial Hemiplegic Migraine Type 1 (FHM1)
25. Human FHM1 mutation R192Q
26. Spinocerebellar Ataxia Type 6 (SCA6)
27. Ca2+ channel mutations: Cellular level
28. Ca2+ channel mutations: Small circuit level
29. Mutations vs. Polymorphisms
30. Alleles classification is based on their frequency
31. Summary

Topics Covered

• Gene mutations viewed in the context of the central dogma of molecular biology
• Relationship between genotype and phenotype and the impact of mutations
• Classification of ion channels and channelopathies
• Structure function relations for voltage-gated Ca2+ channels
• P/Q type Ca2+ channelopathies
• Ca2+ channel mutations and sources of cell- and circuit-level phenotypic diversity
• Distinction between mutations and polymorphisms

Links

Series:

• Calcium Signaling II

Categories:

• Biochemistry
• Cell Biology
• Clinical Practice

Talk Citation

Publication History

• Published on November 18, 2012
• Archived on January 31, 2022

Financial Disclosures

• Dr. David Friel has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.