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DEE7

Chr 20AD

potassium voltage-gated channel subfamily Q member 2

Also known as: BFNC, DEE7, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2

This gene encodes a subunit of the M channel, a slowly activating and deactivating potassium channel that regulates neuronal excitability by forming complexes with KCNQ3. Mutations cause developmental and epileptic encephalopathy 7, which presents in the neonatal period as part of the spectrum that includes benign familial neonatal convulsions. The condition follows autosomal dominant inheritance.

GeneReviewsOMIMResearchSummary from RefSeq, OMIM
AD1 OMIM phenotype
📖
GeneReview available — DEE7
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE7?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DEE7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found