We’re proud to highlight a new publication co-authored by several members of the PNTC team and our colleagues at CHOP: “Genetic testing for familial epilepsies: Diagnostic yield and genetic findings.” Congratulations to our colleagues Colin Ellis, Hannah Shalaby, Aaron Baldwin, and Eric Marsh on their contributions to this important study!
The research examined genetic testing outcomes in a large cohort of pediatric and adult patients with epilepsy and found a genetic diagnosis in 20% of cases, supporting genetic testing as an important consideration for patients affected by familial epilepsy, regardless of their family history or inheritance pattern.
This work adds valuable insight into the diagnostic strategies for familial epilepsy.
Read the full publication here: https://lnkd.in/eT_bYgb7