Pangkong Fox
Scientist turned educator turned stay-at-home-mom turned rare disease parent/caregiver turned science engagement director and advocate.
www.cacna1a.org
@scn2a.bsky.social
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our team of leaders strive every day and, in every way, to improve the lives of not only the patients, but the entire family.
@djlavery.bsky.social
Loulou Foundation, tackling CDKL5 Deficiency Disorder in collaboration with our amazing patient families.
@georgetakei.bsky.social
I’ve boldly gone into the clear blue yonder. Follow for more recipes and tips.
@chaiannng.bsky.social
ClinGen VCEP members for cardiac potassium and sodium channels. I provide functional data using Automated Patch Clamp as evidence for VUS reclassification in channelopathies. Disclaimer: “Opinions expressed are my own.”
@neurobender.bsky.social
Neuroscientist at UCSF. Studies everything related to neuronal ion channels—their modulation, their role in neuronal integration, and the intersection between these functions and neurodevelopmental and neuropsychiatric disorders.
@cacna1c.bsky.social
Improving diagnosis, treatment and care of those living with #CACNA1C related disorders including #TimothySyndrome and #LongQT8. Registered charity no: 1185523. NGO Source certified 501(c)(3) equivalency determination. https://linktr.ee/cacna1c
@clirinx.bsky.social
Clinical Research IT for Epilepsy & Rare Diseases Natural Hx Studies, Patient Registries, Electronic Data Collection Creator of The CRID and The RDDR Web: https://clirinx.com
@rikkesmoller.bsky.social
Geneticist/Professor at the Danish Epilepsy Centre, Filadelfia & University of Southern Denmark 🇩🇰 I Epilepsy 💜 | Precision Medicine 💊 I Genetics 🧬 | Rare Disease 🦓 |
@jfgunderwood.bsky.social
WCAT Forensic Psychiatry Registrar. Wellcome @gw4cat.bsky.social alumnus. Researching mental health in neurodevelopmental disorders via genomics/ epi/ big(ish) data at NMHII & CNGG, Cardiff University. Uncertainty | Consciousness | Mistake not...
@thevgccc.bsky.social
Raising awareness & promoting collaboration across the #calcium #channelopathies. Composed of caregivers & individuals impacted by the channelopathies, alongside researchers and clinicians focused on the 10 calcium genes. https://www.thevgccc.org
@bsky.app
official Bluesky account (check username👆) Bugs, feature requests, feedback: support@bsky.app