Nonseizure consequences of Dravet syndrome, (KCNQ2-DEE), KCNB1-DEE, Lennox-Gastaut syndrome, ESES: A functional frameworkFunctional abilityOutcome measuresPrecision medicineEpilepsyRationale: Developmental epilepsies and encephalopathies (DEEs) arc characterized by many severe developmental impairments, which...
We mapped the activated brain regions using c-fos protein labeling 2 h after seizure induction. Results: We show that the UIS have the same phenotypic expression and the same severity as spontaneous generalized seizures (SGS) in the Kcnq2-NEO-DEE mouse model. The developmental period during ...
Hcrt神经元在睡眠中起关键作用。Hcrt神经元兴奋时,能使小鼠发生从睡眠到觉醒状态的转化,并维持觉醒。而年老小鼠的Hcrt神经元的KCNQ2/3(钾离子通道)
In addition, functional validation was performed in the drosophila to further evaluate the missense variant in the KCNQ2 gene as the cause of this patient. Results: A new missense variant in the KCNQ2 gene was identified: NM_172107.4:c.1007C > A(p.ALa336Glu), which resulted in the ...