KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity
Trupti Jadhav, Sophie E Bouffler, Emily Innes, Michael Fahey, Matthew Hunter, Kavitha Kothur, Sebastian Lunke, Matthew Lynch, Emma Macdonald‐Laurs, Elizabeth Emma Palmer, Chirag Patel, Jason Pinner, Kate Riney, Rani Sachdev, Sarah A Sandaradura, Ingrid E Scheffer, Zornitza Stark, Katherine B Howell · 2026
Read KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity by Trupti Jadhav, Sophie E Bouffler, Emily Innes, Michael Fahey, Matthew Hunter, Kavitha Kothur, Sebastian Lunke, Matthew Lynch, Emma Macdonald‐Laurs, Elizabeth Emma Palmer, Chirag Patel, Jason Pinner, Kate Riney, Rani Sachdev, Sarah A Sandaradura, Ingrid E Scheffer, Zornitza Stark, Katherine B Howell (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13238869.txt.
Description
Trupti Jadhav and co-authors ask whether fast gene answers change the fate of newborns whose seizures stem from one potassium-channel gene. A fault in the gene sparks epilepsy in the first days of life. The right drug depends on the exact fault, so speed may matter.
Thirty-seven children from five centers were studied. Six had a genetic diagnosis within about two weeks of the first seizure; the rest waited longer. The team compared development and seizure outcomes between the groups. They also hunted newborn traits that predict later severity. Baseline traits were alike, so the timing contrast is cleaner. If early answers help, gene testing belongs in the first workup. The study tests that hope.
Catalog record
| CREATOR | Trupti Jadhav, Sophie E Bouffler, Emily Innes, Michael Fahey, Matthew Hunter, Kavitha Kothur, Sebastian Lunke, Matthew Lynch, Emma Macdonald‐Laurs, Elizabeth Emma Palmer, Chirag Patel, Jason Pinner, Kate Riney, Rani Sachdev, Sarah A Sandaradura, Ingrid E Scheffer, Zornitza Stark, Katherine B Howell |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 43 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |