Ingo Helbig

I became a US citizen today. ...here is my blog post on Life, Liberty, and the Pursuit of Precision Medicine epilepsygenetics.net/2025/05/29/lif…

STRIPE | Beyond the Ion Channel ...we just published on why rare disease genetics may be shifting from DNA to RNA. STRIPE uses targeted long-read RNA sequencing to reveal variants missed by standard testing. #more-11222" target="_blank" rel="nofollow noopener">epilepsygenetics.blog/2026/04/27/str… #EpilepsyGenetics #RareDisease

…and suddenly, decades of cerebral palsy research became meaningful to STXBP1 and SYNGAP1. In our study (Pierce, Orlando, et al.), CP classification scales actually work in synaptic disorders ...and reveal something deeper.. 🔗 epilepsygenetics.blog/2026/04/12/wha…

The Fluency Illusion | Beyond the Ion Channel ...we just published how people who stutter can become fluent when singing—and why this reveals that speech is a timing-dependent brain network, not a simple process. 🔗 epilepsygenetics.blog/2026/04/08/the…

Doctors take more high-stakes exams than virtually any other profession. Over 10+ years of this, I became obsessed with one question: which study techniques actually work? Here's how I learned to study less and score higher 🧵1/11

IT'S OVER. Biomedical figure creation just got a total reset. Noah AI lets anyone (YES, anyone) turn a single prompt into a publication-ready research figure with accurate labels, real mechanisms, and academic-standard styling. Here's how you can do it in minutes:

Moving AI in epilepsy beyond the buzzwords | Beyond the Ion Channel …we just published a short reflection after the AI in Epilepsy Conference 2026. In rare genetic epilepsies, we are still earlier. In many cases, we are still building the data. epilepsygenetics.blog/2026/03/29/mov…

This is a great open-access resource (The Genotype-Phenotype Map) linking fine-mapped GWAS summary statistics for 16,000 traits and molecular QTLs for 2.7 million omics measurements with colocalization across significant loci.

Familial Epilepsy Is Not as Simple as We Think | Beyond the Ion Channel ...we just published a post on our Epilepsia study of genetic testing in 484 families. Familial epilepsy has a strong genetic yield, but pedigree patterns can be misleading. epilepsygenetics.blog/2026/03/11/fam…

New preprint: >7 years of collaboration across >100 clinicians, scientists & patient advocacy communities. 'Gene Portals: A Framework for Integrating Clinical, Functional, & Structural Evidence into Rare Disease Variant Classification medrxiv.org/content/10.648…

New post: The Landscape of Communication in Genetic Neurodevelopmental Disorders Using Simons Searchlight & SPARK data, Hsu et al. map communication abilities across many genetic conditions. epilepsygenetics.net/the-landscape-… #RareDisease #Neurogenetics #Autism #Epilepsy

Fascinating study looking at how the genetics of body mass index (BMI) varies from 1 to 18 yrs of age in the ALSPAC cohort. Love this plot that visualizes how genetic signals at each time point correlates with rest of the time points. BMI genetics at 1 yrs seem to be very different from that at 18 yrs. Wang et al. Nat Comm 2026 nature.com/articles/s4146…

The Pike Effect [🎞️happymicrotales]

@sciqst @curedravet @DravetUK @shiva_bfx @IlaeWeb @DrDaniAndrade ...thank for this insight. ...one strength of #RWD analysis is that it helps understand how conditions vary outside the narrow scope of a trial. ...for example, the seizure variability seen in our cohort can inform trial endpoints.

This is an exciting development in refining trial endpoints using real-world data for SCN1A-related disorders. Real-world data can offer invaluable insights that controlled environments might miss. How do you see these findings potentially impacting future clinical trials or therapeutic strategies for Dravet Syndrome? For anyone looking to dive deeper into biomedical topics or research, Sci-Quest offers comprehensive capabilities to generate biomedical reviews—check it out here: sciqst.com. #SCN1A #EpilepsyResearch #Medicine

Preprint alert 🚨 SCN1A-Related Disorders Using Real-World Data Across 681 Patient-Years 100 individuals. 681 patient-years. Real-world data to refine trial endpoints. 🔗medrxiv.org/content/10.648… #SCN1A #DravetSyndrome #Epilepsy

Phenotypes are like Water | Beyond the Ion Channel For #RareDiseaseDay 2026, I revisited a 2023 idea: phenotypes exist as ...ice (trial readiness) ...water (real-world data) ...and vapor (computational phenotyping) epilepsygenetics.blog/2026/02/28/phe…

An Atlas into Pediatric Neuroimmunity | Beyond the Ion Channel Rare disease in child neurology is often framed as genetics. Yet some conditions are immune-mediated. Biobanking matters. epilepsygenetics.blog/2026/02/23/an-…

Decoding CACNA1A | Beyond the Ion Channel In a recent study, we functionally assessed 42 CACNA1A missense variants. Hemiplegic migraine aligns with gain of function, but finer phenotype mapping remains difficult. 🔗 epilepsygenetics.blog/2026/02/18/dec…

...I just published a reflection on how terms like “glymphatic system,” E–I imbalance, mirror neurons, and channelopathy shape neuroscience. epilepsygenetics.blog/2026/02/15/gly…

Minimal Fusion at WHX 2026 | Beyond the Ion Channel At World Health Expo in Dubai, our synapse animation was projected at architectural scale. It made me think about systems to make rare disease therapies succeed... epilepsygenetics.blog/2026/02/13/min…

New pre-print 🗞️ : Genotype-specific communication profiles in 79,518 individuals with neurodevelopmental disorders (#NDD #DEE #ASD) More detailed post on LinkedIn. Link to pre-print: medrxiv.org/content/10.648…