The KCNQ2 gene encodes the Kv7.2 subunit of a voltage-gated potassium channel that underlies the neuronal M-current, a key regulator of membrane excitability. Mutations in KCNQ2 disrupt channel ...
SRF (SYNGAP1), RSRT (Rett), CACNA1A, STXBP1, Loulou (CDKL5), & KCNQ2 Cure (KCNQ2) collaborate to support Dr. Devinsky’s research for clinical trial readiness. Co-funded by multiple organizations, this ...
A study has identified a genetic mutation underlying a rare form of epilepsy, and reveals novel molecular and cellular mechanisms by which the disorder manifests in patients. The research, published ...
In a recent study, genetic mutations of the KCNQ2 potassium ion channel were identified in 8/80 (10%) of children with early infantile seizures and associated psychomotor retardation. [1] Seizures ...
KCNQ2 and KCNQ3 are highly expressed in the central nervous system and are the principal contributors to the M-current, a critical potassium current that modulates neuronal excitability. Therefore, ...
Researchers at the VIB-UAntwerp Center for Molecular Neurology have visualized how brain network development is altered in a model of KCNQ2-related developmental and epileptic encephalopathy, a rare ...
A study has identified a genetic mutation underlying a rare form of epilepsy, and reveals novel molecular and cellular mechanisms by which the disorder manifests in patients. The research, published ...
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