Meeting # 5: We welcome Giuseppe Lanza, MD, PhD

SOVM Meeting #5 — Minutes & Action Plan

Attendees:

• Dr. Giuseppe Lanza — neurology; sleep-related movement disorders; editorial boards (PLOS ONE, BMC Neurology, MDPI)

• Dr. Jay Lombard — neurology/psychiatry; ion-channel & neurodegeneration focus; glymphatic/CSF interest

• Tracy Hans — patient-research lead; registry/cohort coordinator.

Not in attendance:

• Erica Schwarz Taylor — genomic analysis (Texas State Univ., sequencing.com liaison)

• Prof. Lyn Griffiths — ion-channel genetics (Australia; joining mid-Oct)

Core Phenotype (working set)

• Sleep-onset myoclonus preventing sleep initiation

• Sleep maintenance failure with jerks and adrenaline-like arousals

• REM intrusion phenomena (dream enactment; hypnagogic/pompic hallucinations)

• Common precipitants: SSRIs/SNRIs, anticholinergics, hormonal shifts (menopause/post-partum), mineral imbalance, physical/emotional stressors, toxins, infections.

• Family history/polygenic signal in a subset; some infant cases

Discussion on Case Review Plan

• Define a 5-feature inclusion checklist (≥4/5 to qualify) -(there might only be the above!)

• Ask for PSG with extended EMG around sleep onset; document RBD/PLMS and cortical vs subcortical features where possible.

• Analyze genetics in two tiers: (A) ion channels (SCN1A/CACNA/KCN/Cl⁻; GABA_A) and (B) modifiers (RAAS/kinin: ACE/CPN/MME/APP; AQP4; NO pathways, etc).

• Correlate treatment response (CAIs vs SV2A agents vs benzodiazepines) with channel/modifier patterns and chloride/acid–base markers.

• Stage publication: Phase 1 case-series + cohort overview; Phase 2 expanded pathway genetics with collaborators.

• Reviewed bringing in the other interested ion channel researchers tied with Dr. Lanza’s clinic.

Next Steps

• Tracy to share bio information on other researchers via e-mail, introduce the team in an email, schedule next joint call for mid-October, share EMG citation article. Interim updates via email: Erica’s genetics summary and Tracy’s registry (will need MD/PhD approval to extract preliminary counts from registry - triggers, drug exposures, hormones, family hx, PSG done, co-occurring disorders).

• Drs. Lanza and Lombard: Advise on PSG/EMG parameters & differentials;

• Erika: update on IRB status and any preliminary patterns. SCN1A/CACNA/KCN/Cl⁻; AQP4; ACE/CPN/MME/APP; NO-pathway.

• Other/unassigned: draft capture protocol for inflammatory levels.

• Future topics to review: ISF Neurofeedback trials. Revisit inclusion/exclusion criteria to minimize selection bias