Meeting #3 and aftermath

Summary of Week 3 Meeting

• We explored personalized medicine for SOVM and identified direct treatment options mapped to my own specific genetic variants. The way to do it is to AI search: Can you list all available FDA and EMA drugs and non-pharmacological agents that would address these genes? EYE OPENING - I saw that all the medications I am on or have tried are not directly addressing my genetic profile. I created a chart.

• We refined the ideal researcher profile to strengthen the study: expertise in sodium channelopathies (e.g., SCN1A/Nav1.1), oscillatory instability, circadian regulation, and neurovascular physiology. We researched profiles, he told me what to look for. This person or these people would help out with the case studies and know what inflammatory testing to include.

• We confirmed we are actively looking for participants with completed WES or WGS to better connect genotype with therapeutic options. I have confirmed 20 people are ordering WGS (admins have WES). That should give us plenty to choose from. 

• We explored the potential correlation between ion channelopathies and cerebral venous outflow obstruction, situating structural/vascular factors as potentiators of excitability.

• We reviewed emerging MRI modalities for glymphatic/flow assessment—4D flow MRI, phase-contrast MRI, and DTI—and their utility for testing the structural/vascular layer of the model.

• We reviewed gap junction dysfunction as a contributor to hypersynchrony. Therapeutic classes (e.g., gap junction blockers, SV2A modulators) may be mechanistically relevant, but should be framed carefully in the manuscript (not as treatment recommendations). Gap junctions are not classic ion channels, but they are critical. Drugs that fit in this category fall between direct and indirect in helping.

Manuscript Integration (agreed additions): I need to

• Add a section on oscillatory instability (definition; linkage to ion channel variants; role in N1–N2 transition).

• Add a section on gap junction dysfunction (how neuron–glia coupling can amplify excitability; interaction with sodium channel variants).

• Include a short therapeutic classes table (mechanistic possibilities only), and explicitly place these within the layered model (genetic, structural/vascular, inflammatory, autonomic).

Other tasks:

• Bring on help / activate some funding for this project. Especially before genetics return.

• Connect with sequencing.com

Can use help with:

1. Update Case Review List

   • Add any new names and details I give you.

   • Make sure the list is current and accurate.

2. Rename & Match Adobe Files

   • Open the folder with the Adobe files.

   • Rename each file so it matches the person’s name in the contenders list.

   • Double-check each file is matched to the correct person.

3. Researcher Contact Info

   • Look up articles I provide.

   • For each article, find and record the contact information for the researcher(s) — usually in the “Corresponding Author” section.

4. Fix Names on Wix

   • Log into my Wix account.

   • Check for any names that need correcting and update them.

5. Research Square Posting Instructions

   • Search online for how to post an article on Research Square.

   • Create a step-by-step guide for me to follow.

6. Sanford Application

   • Print a fresh copy of the Sanford application.

   • Make sure it’s complete and ready for mailing.