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• 46 min
  1. Genetic defects and calcium

  • Prof. Tullio Pozzan
• 38 min
  2. Pancreatitis and calcium signaling

  • Prof. Ole Petersen
• 28 min
  3. Ca2+ alterations in familial Alzheimer's disease (FAD)

  • Dr. Paola Pizzo
• 48 min
  4. Ca2+ signaling alterations in Alzheimer's disease

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  5. Nociception and alpha2delta3

  • Dr. Greg Neely
• 45 min
  6. Disease hot spots of ryanodine receptors

  • Dr. Filip Van Petegem
• 46 min
  7. Calcium channelopathies

  • Dr. David Friel
• 27 min
  8. Ca2+, the endoplasmic reticulum and cardiac pathology

  • Prof. Marek Michalak
• 47 min
  9. Mechanism-based therapies for heart failure and cardiac arrhythmias

  • Prof. Andrew Marks
• 49 min
  10. Store-operated Ca2+ entry and vascular smooth muscle remodeling

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• 43 min
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  • Prof. Laura del Senno
• 21 min
  12. Acidocalcisomes: conserved from bacterial to human cells

  • Prof. Roberto Docampo
• 26 min
  13. Cellular signaling on host-malaria parasite interactions

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• 34 min
  14. Ca(v)1.3 and deafness

  • Dr. Amy Lee
• 38 min
  15. Immunodeficiencies and pathologies associated with mutations in STIM/ORAI

  • Dr. Thierry Capiod
• 31 min
  16. Vascular calcification location, formation and biological activity

  • Dr. Diane Proudfoot
• Archived Lectures *These may not cover the latest advances in the field
• 31 min
  17. Ca2+ channelopathies

  • Dr. David Friel

Printable Handouts

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Navigable Slide Index

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.