Kv7 Platform

KCNQ2-EE Mutation in Young Children

Under normal circumstances, the KCNQ2 gene produces a protein, Kv7.2, which acts like a brake to prevent excessive firing of nerve cells in the brain. Mutations in the gene “cut the brakes."

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KCNQ2-EE Mutation

Diagnosis of KCNQ2-EE Requires a
Genetic Test

Repetitive seizures

Symptoms of the KCNQ2-EE Mutation

Repetitive seizures

Children with DEE experience persistent seizures, which often respond poorly to treatment.

Developmental delay

Developmental delay

DEE is associated with varying degrees of decreased alertness, poor muscle tone, and developmental impairment involving one or more domains (motor, social, language, cognition).

Abnormal EEG

Abnormal EEG Scans from the KCNQ2-EE Mutation

Abnormal EEG

Brainwave patterns show evidence of seizure activity as well as abnormal patterns between seizures, particularly in the first year of life.

Genetic mutation

Genetic mutation

Several genetic variants distinguish DEE from other childhood epilepsies.

Developmental & Epileptic Encephalopathy Signs and Symptoms

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