Trio-based #ExomeSequencing in #EpilepticEncephalopathy identifies SBF1, CELSR2, and TENM1 as high-confidence genes linked to #LennoxGastautSyndrome, highlighting individualized analysis for uncovering genetic causes & refractory #seizure mechanisms.
Read: doi.org/10.1016/j.ge...
Read: doi.org/10.1016/j.ge...
April 27, 2026 at 5:30 PM
Trio-based #ExomeSequencing in #EpilepticEncephalopathy identifies SBF1, CELSR2, and TENM1 as high-confidence genes linked to #LennoxGastautSyndrome, highlighting individualized analysis for uncovering genetic causes & refractory #seizure mechanisms.
Read: doi.org/10.1016/j.ge...
Read: doi.org/10.1016/j.ge...
Key point: Optogenetics induced excessive neural excitation of the hypothalamus projecting toward the mediodorsal thalamus and prelimbic cortex.
onlinelibrary.wiley.com/doi/full/10....
#epilepsy #ILAE #ablationbasedepilepsysurgery #EEGanalysis #epilepticencephalopathy #epilepticnetwork
onlinelibrary.wiley.com/doi/full/10....
#epilepsy #ILAE #ablationbasedepilepsysurgery #EEGanalysis #epilepticencephalopathy #epilepticnetwork
March 25, 2025 at 5:13 PM
Key point: Optogenetics induced excessive neural excitation of the hypothalamus projecting toward the mediodorsal thalamus and prelimbic cortex.
onlinelibrary.wiley.com/doi/full/10....
#epilepsy #ILAE #ablationbasedepilepsysurgery #EEGanalysis #epilepticencephalopathy #epilepticnetwork
onlinelibrary.wiley.com/doi/full/10....
#epilepsy #ILAE #ablationbasedepilepsysurgery #EEGanalysis #epilepticencephalopathy #epilepticnetwork
#Biogen #Dravetsyndrome #childhoodepilepsy #StokeTherapeutics #zorevunersen #EMPERORtrial #antisenseoligonucleotide #ASO #SCN1Agenemutation #EPNS #Developmentalencephalopathy #epilepticencephalopathy #Dravetsyndromepatients #SUDEP #paediatricneurology
pharmaphorum.com/news/case-bu...
pharmaphorum.com/news/case-bu...
Case builds for Biogen, Stoke's Dravet syndrome drug
Hopes have risen for a new treatment for severe childhood epilepsy Dravet syndrome, on the back of new data for Biogen and Stoke's zorevunersen
pharmaphorum.com
July 15, 2025 at 1:29 PM
These findings highlight a potential GOF effect for certain DS cases, suggesting that SCB-ASMs may be effective for GOF/mixed DS.
doi.org/10.1002/epi4...
#epilepsy #ilae #epilepsiaopen #Dravetsyndrome #epilepticencephalopathy #gainoffunction #SCN1A #sodium channel
doi.org/10.1002/epi4...
#epilepsy #ilae #epilepsiaopen #Dravetsyndrome #epilepticencephalopathy #gainoffunction #SCN1A #sodium channel
July 11, 2025 at 4:51 PM
These findings highlight a potential GOF effect for certain DS cases, suggesting that SCB-ASMs may be effective for GOF/mixed DS.
doi.org/10.1002/epi4...
#epilepsy #ilae #epilepsiaopen #Dravetsyndrome #epilepticencephalopathy #gainoffunction #SCN1A #sodium channel
doi.org/10.1002/epi4...
#epilepsy #ilae #epilepsiaopen #Dravetsyndrome #epilepticencephalopathy #gainoffunction #SCN1A #sodium channel
#GainOfFunction RYR3 variants impair #NeuronalDevelopment, and drive #EpilepticEncephalopathy, identifying RYR3 as a novel disease gene and highlighting #RyanodineReceptor stabilization as a therapeutic strategy. @pku1898.bsky.social
#OpenAccess: doi.org/10.1016/j.ge...
#OpenAccess: doi.org/10.1016/j.ge...
July 2, 2026 at 2:54 PM
#GainOfFunction RYR3 variants impair #NeuronalDevelopment, and drive #EpilepticEncephalopathy, identifying RYR3 as a novel disease gene and highlighting #RyanodineReceptor stabilization as a therapeutic strategy. @pku1898.bsky.social
#OpenAccess: doi.org/10.1016/j.ge...
#OpenAccess: doi.org/10.1016/j.ge...
Recent research identifies CSMD1 as a causative gene for developmental and epileptic encephalopathy & generalized epilepsies providing new understanding of genetic factors involved in such neurological conditions. #EpilepticEncephalopathy Read more: www.sciencedirect.com/science/arti...
January 4, 2025 at 9:33 AM
Recent research identifies CSMD1 as a causative gene for developmental and epileptic encephalopathy & generalized epilepsies providing new understanding of genetic factors involved in such neurological conditions. #EpilepticEncephalopathy Read more: www.sciencedirect.com/science/arti...