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DEE2

Chr XXLD

cyclin dependent kinase like 5

Also known as: CFAP247, DEE2, EIEE2, ISSX, STK9

NCBI Gene: 6792 OMIM: 300672

This protein kinase phosphorylates proteins and regulates cellular signaling pathways. Mutations cause developmental and epileptic encephalopathy 2, an X-linked dominant condition that can present as infantile spasm syndrome (West syndrome) with early onset seizures and developmental delays. The gene primarily affects neurological development and seizure control.

OMIM ResearchSummary from RefSeq, OMIM

This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

XLD1 OMIM phenotype

Clinical Summary— DEE2

💊

Clinical Trials

8 active or recruiting trials — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DEE2?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DEE2 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Dravet Syndrome (DS)

A Study to Evaluate the Safety and Pharmacokinetics of RC001 in Children With Dravet Syndrome

RECRUITING

NCT07675746Phase EARLY_PHASE1Second Affiliated Hospital of Guangzhou Medical UniversityStarted 2025-12-22

RC001 injection-Dose Escalation CohortRC001 injection-Fixed Dose Cohort

Dravet Syndrome

A Clinical Study to Evaluate the Safety and Efficacy of ETX101, an AAV9-Delivered Gene Therapy in Children With SCN1A-positive Dravet Syndrome (Australia Only)

ACTIVE NOT RECRUITING

NCT06112275Phase PHASE1, PHASE2Encoded TherapeuticsStarted 2024-02-28

ETX101

Dravet Syndrome

A Clinical Study to Evaluate the Safety and Efficacy of ETX101 in Infants and Children With SCN1A-Positive Dravet Syndrome

RECRUITING

NCT05419492Phase PHASE1, PHASE2Encoded TherapeuticsStarted 2024-05-14

ETX101

Dravet Syndrome

Longitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation

RECRUITING

NCT07251673Assistance Publique - Hôpitaux de ParisStarted 2025-09-15