Related Experiment Video

Updated: Sep 8, 2025

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
11:33

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

Published on: March 12, 2013

13.5K

Understanding lived experiences with KCNQ2 developmental and epileptic encephalopathy

Michele H Potashman1, Katja Rudell2, Linda Abetz-Webb3

  • 1Biohaven Pharmaceuticals, Inc., New Haven, CT, USA.

Epilepsy & Behavior : E&B
|September 5, 2025
PubMed

Insights

KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE) significantly impacts communication and motor skills in children. Parent and healthcare provider input is crucial for developing effective outcome measures for this rare pediatric disorder.

Area of Science:

  • Genetics and Neurology
  • Pediatric Rare Diseases
  • Clinical Outcome Measurement

Background:

  • KCNQ2 developmental and epileptic encephalopathy (KCNQ2-DEE) is a severe pediatric neurological disorder.
  • Characterized by early-onset seizures and significant neurodevelopmental impairments.
  • Existing outcome measures may not fully capture the patient and family experience.

Purpose of the Study:

  • To explore parent and healthcare professional (HCP) perspectives on KCNQ2-DEE.
  • Identify key signs, symptoms, and impacts of KCNQ2-DEE.
  • Inform the development of meaningful outcome measures for KCNQ2-DEE.

Main Methods:

  • Qualitative interviews conducted with 53 parents of children with KCNQ2-DEE and 2 expert HCPs.
  • Interviews explored signs, symptoms, impacts, and phenotypic variations affecting development.
  • Data analyzed using ATLAS.Ti v23 software.

Main Results:

  • Parents most frequently reported communication difficulties (88.9%) and motor problems (gross 81.5%, fine 63.0%).
  • Communication difficulties (74.1%), behavioral disorders (37.0%), and gross motor problems (24.1%) were most bothersome.
  • Seizures were less bothersome post-infancy (mean score 5.3/10); developmental abilities varied significantly.

Conclusions:

  • Parent and HCP perspectives highlight communication and motor skills as critical outcome domains in KCNQ2-DEE.
  • Findings underscore the need for patient-centered outcome measures.
  • Results will guide the selection of endpoints in future KCNQ2-DEE therapeutic trials.
Abstract

Keywords:
Concept elicitationKCNQ2 developmental and epileptic encephalopathyOutcomesSeizures

More Related Videos

Simultaneous Video-EEG-ECG Monitoring to Identify Neurocardiac Dysfunction in Mouse Models of Epilepsy11:54

Simultaneous Video-EEG-ECG Monitoring to Identify Neurocardiac Dysfunction in Mouse Models of Epilepsy

Published on: January 29, 2018

25.8K
Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization09:57

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Published on: September 20, 2024

2.8K

Related Concept Videos

Epilepsy and Seizures: Overview01:24

Epilepsy and Seizures: Overview

Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...
274
Antiepileptic Drugs: Potassium Channel Activators01:20

Antiepileptic Drugs: Potassium Channel Activators

Ezocgabine or retigabine, an antiepileptic drug of remarkable efficacy, has revolutionized the management of seizures. It is a potassium channel activator, explicitly targeting the family of Q subtype potassium channels. It enhances the transmembrane potassium currents, regulating neuronal excitability. This action stabilizes the resting membrane potential, a pivotal factor in mitigating the hyperexcitability that characterizes epilepsy.
Ezogabine has gained approval as an adjunctive treatment...
272
Seizures: Classification01:13

Seizures: Classification

Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
Seizures are typically classified into two main categories: focal and generalized seizures.
Focal Seizures
Focal seizures originate from specific regions of the brain. These seizures are further sub-classified into two types:
582