Jillian McKee, MD, PhD

The edge of SYNGAP1 – familial variants in a complex neurodevelopmental disorder | Beyond the Ion Channel Bridge the gap. There are very few conditions that I have learned as much about in the last three years as SYNGAP1-related disorders. We just passed the critical milestone of 100 SYNGAPians followed…

The edge of SYNGAP1 – familial variants in a complex neurodevelopmental disorder | Beyond the Ion Channel epilepsygenetics.net/2025/05/27/t...

The Spliceosome Connection – RNU4-2 in neurodevelopmental disorders | Beyond the Ion Channel An RNA world. Last week, a simple bar graph caught my attention and prompted me to write my first blog post in over a year. I came across a figure comparing the frequency of de novo variants in…

...our blog post on RNU4-2 and ReNU Syndrome.

epilepsygenetics.net/2025/05/20/t...

Rare dysfunctional SCN2A variants are associated with malformation of cortical development - PubMed These results support expansion of the clinical spectrum of SCN2A-related disorders and the association of genetic variation in SCN2A with MCD, which suggests previously undescribed roles for SCN2A…

🚨 Can SCN2A be a cause of brain malformations?

..in our paper by Clatot et al, we report SCN2A variants linked to cortical malformations & epilepsy
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On my way to LA for the SYNGAP1 conference followed by the American Epilepsy Society annual meeting. Excited to catch up with friends and colleagues! ✈️☀️ @curesyngap1.bsky.social @amepilepsysoc.bsky.social

Also, please add @ingohelbig!

This is great, thank you! I also work in this space.

Hi Bluesky! 👋 New here and looking to connect! Physician-scientist mom studying genetic epilepsies, using quantitative EEG, computational phenotyping, and digital health tools.