Drug-resistant and brain MRI-negative neonatal epilepsies have a strong monogenic component and are associated with a poor long-term neurodevelopmental outcome.
doi.org/10.1002/epi4...
#epilepsy #ILAE #epilepsiaopen #DEE #epilepsysyndromes #KCNQ2 #neonatalonsetepilepsy #prognosis #factors
Carbamazepine is able to reduce the seizures by 87% after chronic treatment in the KCNQ2-DEE mouse model.
doi.org/10.1002/epi4...
#epilepsy #epilepsiaopen #ILAE #carbamazepine #chronictreatment #cognitivedeficits #DEE #KCNQ2
🚨 New RFP: KCNQ2 Cure + CURE Epilepsy 🚨
Now accepting proposals for novel therapeutics or disease models in KCNQ2-related disorders.
View details + apply: shorturl.at/lT97Y
#KCNQ2 #EpilepsyResearch #KCNQ2 #Research #KV7
Wonderful attendance for Student Research Conference 2025 at St. John's U! My lab presented a poster on #RNAsplicing of voltage-gated #potassium channels Kv7.2 #KCNQ2 and Kv7.3 #KCNC3. Students Amatun Noor Prapty and Chris Beauvil presented the poster. Thank you NIH and NIGMS for funding our work!
Key point: AMT appears to be a safe treatment option for KCNQ2/3 GOF-related neurodevelopmental disorders, even in young children.
doi.org/10.1111/epi....
#epilepsy #ilae #KCNQ2 #KCNQ3 #neurodevelopmentaldelay #precision medicine
Recent findings reveal a previously unrecognized structural role of the #KCNQ2 pore turret and its involvement in neurodevelopment and epileptogenesis.
Read more here: www.nanion.de/news/diverse...
#ionchannels #channelopathies
