Epileptic Encephalopathy

What is a KCNQ2-EE Mutation?

Gene mutations cause a spectrum of benign and severe epilepsies in infants and children. Mutations in the KCNQ2 gene cause severe channel dysfunction in a rare and often disabling disease called KCNQ2 epileptic encephalopathy (KCNQ2-EE)

Scroll to discover
KCNQ2 Mutation

Infants born with KCNQ2-EE experience not only frequent seizures, but also profound developmental delay, and sometimes early death

Developmental & Epileptic Encephalopathy Diagnosis 

Several early childhood epilepsy syndromes are included in the diagnosis of DEE. An epilepsy syndrome is defined by a group of features that include age at seizure onset, the types of seizures seen, the usual course of the seizure disorder, genetic information, developmental outcomes, and other findings.
KCNQ2 epileptic encephalopathy is one of the syndromes defined by a specific mutation. Other DEE syndromes include Dravet syndrome and Lennox-Gastaut syndrome. These syndromes have different features and Dravet syndrome is caused by a different gene mutation.
KCNQ2-EE Mutation Signs & Symptoms to Look Out For

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

Kv7

Addressing an Unmet Need

Do You Believe You or Someone You Know is Suffering from Epileptic Encephalopathy?

Knopp Biosciences A Biotechnology Company Seeking to Improve Patients' Lives