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We just posted a position of a genetic counselor at CHOP's Epilepsy NeuroGenetics Initiative (#ENGIN) | join our dynamic team in one of largest #epilepsy #genetics programs in the country careers.chop.edu/job/Philadelph… #GCChat #geneticcounseling #genomics #jobs #EpiGC

Our STXBP1 paper is finally on PubMed | here is one of our figures with seizure history reconstruction that we hope to expand further in the near future Julie Xian stxbp1

Pleased to announce our review of #neurodevelopmental #epilepsy ⁦HPO⁩ phenomics & EHR analysis ⁦Ingo Helbig ⁦Rhys Thomas⁩ ⁦Julie Xian⁩ ⁦Shiva Ganesan ⁦Peter D Galer⁩ m to the dog onlinelibrary.wiley.com/doi/abs/10.100…

...preprint alert Enriching Representation Learning Using 53 Million Patient Notes through Human Phenotype Ontology Embedding biorxiv.org/content/10.110… Shridhar Parthasarathy CHOP Department of Biomedical & Health Informatics CHOP Research David Lewis-Smith

Congratulations to one of my team, Michael Kaufman on his first paper. Incredible work! Ingo Helbig Shridhar Parthasarathy Jillian McKee Julie Xian doi.org/10.1111/dmcn.1…

🚨🚨new preprint!!🚨🚨: A quantitative tool for seizure severity: diagnostic and therapeutic applications medrxiv.org/content/10.110… We combine iEEG and semiology + clinical validation! w/ @ojemannw Brittany H. Scheid John Bernabei @katedavis12341 Nishant Sinha Brian Litt & others!

Via @AES: Researchers who took data from electronic medical records identified clinical features associated with genetic epilepsies and hope it may lead to earlier diagnoses: bit.ly/3hxugEk #neurotwitter Peter D Galer Dell Medical School Harvard Medical School Nationwide Children's Hospital @AANMember

Great to see that our work is reaching more ears and will hopefully make a positive clinical impact! #epilepsy #genetics Ingo Helbig Julie Xian Shridhar Parthasarathy @SarahRuggieroGC

…the same gene that allows hummingbirds to hover when absent …leads to a remitting #leukodystrophy in humans #FBP2 fructose 1,6-bisphosphatase pubmed.ncbi.nlm.nih.gov/33977262/

....see thread below commenting on our recent preprint on the genetics of #FIRES and status epileptics more broadly x.com/IngoHelbig/sta…

Here, a thread on Ingo Helbig's live talk on "Disease trajectories using #genetics and ML" at the first annual #AIinEpilepsy Meeting ...presented at Breckenridge, CO at an altitude of 9,603′ #EMRGenomics #RareDisease #ENDD

Honored to have won best poster at the #AIinMedicine conference. Our work showed that through the electronic medical records, we can predict genetic epilepsy diagnoses years prior to a clinician. #Epilepsy, #Genetics, #HelbigLab, #CHOP, #ENGIN, #PennBioengineering

Enriching representation learning using 53 million patient notes through human phenotype ontology embedding ⁦HPO⁩ sciencedirect.com/science/articl…

Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus ⁦Danielle de Campo⁩ ⁦Julie Xian⁩ ⁦Katie Rose Sullivan⁩ ⁦@AlexGonzalezPHL⁩ ⁦@SarahRuggieroGC⁩ ⁦Peter D Galer⁩ frontiersin.org/articles/10.33…

...we identified optimal age windows through #virtual #clinical #trials using real-world data ...implications for clinical trial-readiness in STXBP1 and other genetic epilepsies ...to be presented next week at the STXBP1 Summit in Milan, and more on #STXBP1 to come...

new preprint: "Quantifying interictal intracranial EEG to predict focal epilepsy" doi.org/10.48550/arXiv… with Brian Litt @katedavis12341 Akash Pattnaik @ojemannw Alfredo Lucas John Bernabei and others

Key point: Individuals with prior seizures or a later age at onset of epileptic spasms have a higher risk of developing refractory epileptic spasms doi.org/10.1111/epi.17… #epilepsy #DEE #ILAE #epilepticspasms #neonatalseizures #STXBP1 International League Against Epilepsy Epilepsia Wiley Neuro

The Department of #PennBioengineering along with Drs. Brian Litt and Ingo Helbig proudly announce the Doctoral Dissertation Defense of Peter D Galer. "Quantitative Informatics Approaches to Characterize and Predict Childhood Genetic Epilepsies" 9/18 1:00pm bit.ly/4gjZW9V

Machinelearning models using EMR data identify clinical features predictive of #genetic #epilepsies leading to earlier molecular diagnosis and treatment #precisionmedicine #diagnosticodyssey bit.ly/3Tq86U7 Peter D Galer Ingo Helbig

This study provides a longitudinal perspective on SCN8A-related disorders, paving the way for future precision medicine approaches. hubs.ly/Q03kxDbX0 #NeuroX #NeuroTwitter