Previous symbols: EBN, EBN1. Aliases: Kv7.2, ENB1, BFNC, KCNA11, HNSPC.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Benign Neonatal Seizures | causative |
mechanism: KCNQ2 Pathogenic Variant; Kv7.2/Kv7.3 M-Channel Dysfunction
subtype: KCNQ2-BFNS
animal model: Mouse (Mus musculus)
dataset: PMID:41988220
discussion: (unnamed)
scoped to subtype: KCNQ2-BFNS
|
| Early-Infantile Developmental and Epileptic Encephalopathy | causative de novo | |
| Genetic Developmental and Epileptic Encephalopathy | causative |
mechanism: Genetic Lesion in an Ion Channel or Synaptic Gene
|
| KCNQ2 Developmental and Epileptic Encephalopathy | causative de novo dominant negative |
mechanism: KCNQ2 Pathogenic Variant
dataset: geo:GSE122584; geo:GSE291694
|
| Epilepsy |
untyped
Causative
|
|
| Benign Familial Infantile Epilepsy | no genetic record |
dataset: PMID:38160512
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| complex neurodevelopmental disorder MONDO:0100038 | AD | Definitive 2021-11-15 |
no dismech entry |
| neonatal-onset developmental and epileptic encephalopathy MONDO:0100455 | AD | Definitive 2022-06-21 |
no dismech entry |
| neonatal encephalopathy with non-epileptic myoclonus MONDO:0100456 | AD | Definitive 2022-02-15 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.