DEE-SWAS management; ordered the serum autoimmune encephalitis panel

Presumed core neurology contact for DEE-SWAS management. Central to decisions about EEG timing, steroid taper, and whether and when to escalate to IVIG or other immunomodulation.

Pediatric medical genetics; authorized April 6, 2026 pre-imaging labs

Most likely quarterback for the trio WES / CMA / methylation / PTEN workup, which is the top-ranked diagnostic in content/diagnostics/diagnostics.yaml.

Referring/attending physician on the 2026-04-06 UCSF video-EEG and authorizing provider for every UCSF April 2026 workup (LP, cytokine panel, immunoglobulins, iron studies, oligoclonal bands).

Best positioned to order the repeat LP add-ons (CSF cytokines, CSF AE panel, neopterin, neurotransmitter metabolites, folate) and the repeat serum cytokine panel off steroids. Now identified as the UCSF-side pediatric epilepsy/neurology attending who referred Levi for video-EEG monitoring.

UCSF-side attending on the 2026-04-06 to 2026-04-07 continuous video-EEG monitoring study; report author describing "occasional bursts of multifocal spike-wave discharges at P7/F4/T8 and T7" with no seizures.

Key UCSF pediatric-epilepsy contact for any follow-up EEG work at UCSF, including the recommended 4-8 week repeat quantitative SWI study. Sits in the UCSF Epilepsy Center rather than UCSF general neurology and is the report author who signed the near-resolution read.

Somatic mosaicism in brain overgrowth and developmental brain malformations; PIK3CA-related overgrowth spectrum (PROS); megalencephaly syndromes

With germline trio exome and trio whole-genome negative, the next genetics step is mosaic-sensitive tissue-based sequencing. Mirzaa's lab is one of the leading groups in the world for identifying low-level somatic PI3K-AKT-mTOR pathway variants from skin/buccal tissue in children with overgrowth and developmental delay - exactly Levi's phenotype profile. Direct relevance to the mosaic-mtor-pathway differential theory added on 2026-04-17.

Somatic PI3K-AKT-mTOR variants in epilepsy surgical tissue; mosaic brain malformations; epilepsy genetics in infancy / early childhood

Poduri's group has repeatedly shown low-allele-frequency somatic mTOR-pathway variants in children with drug-resistant epilepsy even when blood-based sequencing is negative. Her program is a natural collaborator for framing Levi's DEE-SWAS + overgrowth as a candidate mosaic mTORopathy even in the absence of a clear cortical dysplasia on MRI. Boston Children's also runs one of the leading CSWS clinical programs (already listed separately).

Developmental neurogenetics; cerebellar and forebrain malformations; mosaicism in pediatric brain disorders

Complements the Mirzaa contact at the same institute. Aldinger's expertise in pediatric developmental neurogenetics and mosaicism makes her a reasonable secondary contact if the Mirzaa group has capacity limits or if the Seattle Children's mosaicism research pipeline is the preferred route.

Seronegative / cell-mediated CNS inflammation, cytokine-driven encephalopathies, and steroid-sparing immunomodulation

The April 6, 2026 Th1/Th17-weighted serum cytokine signature plus dramatic steroid response is exactly the case type a pediatric neuroimmunologist is positioned to interpret. Central for decisions about IVIG, repeat IV steroid pulses, or biologic immunomodulation.

PTEN hamartoma tumor syndrome, Sotos/NSD1, Weaver/EZH2, PI3K-AKT-mTOR spectrum, imprinting / BWS-spectrum disorders

Levi's symmetric proportional overgrowth since ~12 months is the single most distinctive phenotype feature and has not yet been addressed by a genetics team with overgrowth-specific expertise. Candidate referrals include the Cleveland Clinic PTEN clinic and equivalents at Boston Children's, CHOP, and Cincinnati Children's.

DEE-SWAS natural history, quantitative SWI, steroid-sparing protocols, ketogenic diet integration, sulthiame access

Second-opinion and registry-enrollment pathway. Candidate centers include Boston Children's CSWS program, CHOP pediatric epilepsy, and European groups with CSWS registries.

Detailed re-read of the April 7, 2026 MRI for cortical tubers, focal cortical dysplasia, subependymal nodules, hamartomas, or white-matter patterns suggestive of mTOR-pathway disease

The single-line MRI summary (nonspecific periventricular white-matter FLAIR R>L) is the weakest documented piece of the case and a targeted re-read could meaningfully change the differential without any new imaging.

Pediatric electrophysiology; most recent EKG reader for Levi

Obvious first call for the cardiology-clearance policy before any QT-prolonging medication.

Interpret borderline IgG 518 with subclasses, infection-risk counseling, IVIG candidacy

The borderline humoral finding is minor on its own but intersects with the immunomodulation question and would be relevant if IVIG is considered for DEE-SWAS.

Family support, research-registry access, newer trial awareness

Cheap, asynchronous access to family-network knowledge and to clinical-research opportunities even before a specific genetic diagnosis is made. Useful for pattern recognition across similar phenotypes.