disease 3,173 words KG: ent-dise-c492153b 2026-03-29
kind:diseasesection:diseasestopic:neurodevelopmental-epilepsytopic:als
Contents

KCNQ2 Encephalopathy

Disease Info
Missense variants in the pore domainAssociated with more severe seizure phenotypes and poorer developmental outcomes
Variants in the voltage-sensing domainShow variable severity
Truncating variantsGenerally associated with severe phenotypes but may have slightly better developmental outcomes than some missense variants
Residual M-currentThe degree of residual channel function correlates with clinical severity
KCNQ3 upregulationDuring the first 1–2 years of life, KCNQ3 expression increases substantially, allowing the formation of more KCNQ2:KCNQ3 heterotetramers that partially restore M-current
Other potassium channelsUpregulation of other potassium channel families (e.g., SK channels, Kv1 family) can provide additional compensatory mechanisms
Synaptic pruning and circuit refinementNormal developmental processes can reduce network hyperexcitability even without pharmacological intervention
Developmental critical periodsSeizure susceptibility may be highest during specific developmental windows when excitatory processes dominate
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph