Jillian McKee, MD, PhD
@jillianmckee.bsky.social
child neurologist | epilepsy neurogenetics | digital health | machine learning/AI enthusiast | physician mom | @ChildrensPhila 🇨🇦🇺🇸
Reposted by Jillian McKee, MD, PhD
The edge of SYNGAP1 – familial variants in a complex neurodevelopmental disorder | Beyond the Ion Channel epilepsygenetics.net/2025/05/27/t...
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…
epilepsygenetics.net
May 27, 2025 at 7:57 PM
The edge of SYNGAP1 – familial variants in a complex neurodevelopmental disorder | Beyond the Ion Channel epilepsygenetics.net/2025/05/27/t...
Reposted by Jillian McKee, MD, PhD
Reposted by Jillian McKee, MD, PhD
🚨 Can SCN2A be a cause of brain malformations?
..in our paper by Clatot et al, we report SCN2A variants linked to cortical malformations & epilepsy
🧠⚡️🧬
..in our paper by Clatot et al, we report SCN2A variants linked to cortical malformations & epilepsy
🧠⚡️🧬
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…
pubmed.ncbi.nlm.nih.gov
May 20, 2025 at 1:48 PM
🚨 Can SCN2A be a cause of brain malformations?
..in our paper by Clatot et al, we report SCN2A variants linked to cortical malformations & epilepsy
🧠⚡️🧬
..in our paper by Clatot et al, we report SCN2A variants linked to cortical malformations & epilepsy
🧠⚡️🧬
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
December 4, 2024 at 2:35 PM
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
Hi Bluesky! 👋 New here and looking to connect! Physician-scientist mom studying genetic epilepsies, using quantitative EEG, computational phenotyping, and digital health tools.
November 15, 2024 at 2:44 AM
Hi Bluesky! 👋 New here and looking to connect! Physician-scientist mom studying genetic epilepsies, using quantitative EEG, computational phenotyping, and digital health tools.