Daniel Calame, MD, PhD
@DanielGCalame
Neurologist studying developmental disorders of movement & cognition. #CerebralPalsy, #RareDisease, #neurogenetics @BCMChildNeuro, BCM @GREGoR_research program.
Enjoyed closing out @Texas_Neuros talking about Next Generation Neurogenetics & Emerging Technologies! We had a nice double header w/ @lemrick444 discussing the rapid evolution of ethics in clinical genetics. Always a fun conference & such a nice setting at @LaCanteraResort
Looking forward to it! @Texas_Neuros
Tomorrow is the big day! 🥳 We’ll be setting up in San Antonio with registration opening at 10am and sessions kicking off at noon. Here’s a look at what’s to come. You can register on-site, and housing stipends are available for residents! #TNS2025
Congratulations to Dr. @MoezDawood on his successful defense! Well done.
cell.com/trends/genetic… Nice review of the role of DDX/DHX helicases in neurodevelopment
Interested in febrile infection-related #epilepsy syndrome (#FIRES), #genetics, and/or #microglia? Check out our new article in @EpilepsiaJourn which implicates microglial dysfunction in FIRES pathogenesis! @KSFisher @aleXankar @BCMChildNeuro onlinelibrary.wiley.com/doi/10.1111/ep…
Continuing a theme - the formidable blooms of Bauhinia forticata
Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures medrxiv.org/content/10.110…
One more poster: Arthrogryposis and neonatal dystonia due to pathogenic mutations in ATP1A - Alyssa Runco, recent @BCMChildNeuro graduate, now NCC fellow in Phoenix
Excited to learn about several posters & a platform presentation from our @ChildNeuroSoc abstract submissions!🎉 Platform: Identifying Ancestry-Enriched Variants in gnomAD: Implications for Rare Neurogenetic Disease Diagnosis - Tianmin Yang, Rice University undergrad student
De novo variants of NALCN differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current medrxiv.org/content/10.110…
📣New from Bicknell & colleagues! 📄Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures cell.com/ajhg/abstract/…
In collaboration w/ Louise Bicknell & colleagues, we show in @AJHGNews that recurrent missense variants in the spliceosome factor CRNKL1 (AKA SYF3) cause #pontocerebellar hypoplasia and #lissencephaly: authors.elsevier.com/c/1lHqAgeXDz61