KCNQ2 journey

KCNQ2 Conceptual Model

A review of how KCNQ2-DEE affect a person and their family's daily life

Published research, 2025

The KCNQ2-DEE conceptual model

In 2023, 53 parents described to researchers what life with KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE) looks like for their children. KCNQ2 Cure Alliance helped connect these families with the study. Their answers became a parent-informed conceptual model, published in 2025.

Explore the model Read the study

The study at a glance

53parents interviewed

54children, ages 1 to 18

114signs and daily limitations

14areas of daily life

What is a conceptual model?

A map of how a condition affects a child and family: symptoms, daily limitations and quality of life, built from what families and clinicians report.

Why it matters

Drug developers use it to decide what a treatment should improve and how to measure it in clinical trials.

What families told us

After infancy, communication, cognition and daily care weigh more than seizures. Trials should measure more than seizures.

How KCNQ2-DEE touches daily life

The model moves from the condition, to the signs parents see, to the impact on children and families.

Who it coversChildren ages 1 to 18 with KCNQ2-DEE

The conditionA new genetic change, usually with seizures in the first week of life and developmental delays

Click any sign or symptom below to see what parents reported and read their own words.

Signs, symptoms and functional limitations

which lead to

Impacts on children and families

It’s not just the seizures

Parents rated how much each area affected them, from 0 (not at all) to 10 (extremely). Communication scored highest. Seizures scored lowest.

For most children, seizures are well controlled or gone after infancy: 61% had no seizures in the four months before their interview. Parents still watch for breakthrough seizures when their child is sick, tired or around loud noise.

Average impact rating from parents who reported each area (0 to 10). Source: Potashman et al., 2025, Fig. 2.

94% of parents saw progress

50 of 53 parents described real improvements in their child’s abilities.

53%Spoken wordsMost-mentioned improvement for children with a mild form

26%WalkingMost-mentioned improvement for children with a severe form

30%Smiles and laughsMost-mentioned improvement for children with a profound form

Every child’s path is different

Milestones varied widely, even among children with the same form of KCNQ2-DEE.

Mild form

Some were running by age 2
Some were writing by ages 9 to 11

Severe form

Some were jumping by ages 3 to 5
Others were still learning to sit with support as teenagers

Profound form

Some were babbling by ages 6 to 8
Some were swallowing pureed foods by ages 6 to 8

The full studyFree to read in Epilepsy & Behavior Questions about the study?Contact Biohaven Pharmaceuticals, Inc., New Haven, CT, the study’s sponsor

Source: Potashman MH, Rudell K, Abetz-Webb L, et al. “Understanding lived experiences with KCNQ2 developmental and epileptic encephalopathy.” Epilepsy & Behavior 2025;172:110670, and its supplementary material. Open access under CC BY-NC-ND 4.0. Parent quotations are drawn directly from the study; some are shortened, marked with ellipses. The study was funded by Biohaven Pharmaceuticals, Inc.; participant recruitment was supported by KCNQ2 Cure Alliance.