Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey

•Clinical features from the largest cohort of KCNQ2-DEE patients.•Comorbidities defined and collected with the collaboration of caregivers.•Patients divided by severity via cluster analysis regardless of epilepsy phenotype.•Groups with different severity had different epilepsy onset and course.•Repo...

Full description

Saved in:
Bibliographic Details
Published in:Epilepsy & behavior 2023-05, Vol.142, p.109153-109153, Article 109153
Main Authors: Cossu, A., Lo Barco, T., Proietti, J., Dalla Bernardina, B., Cantalupo, G., Ghobert, L., Brambilla, I., Giarola, E., Costa, A., De Benito, T., Bethge, S., Cardot, S., Montwill, Iga, Remonato, E., Gramaglia, S., Darra, F.
Format: Article
Language:English
Subjects:
Brain Diseases - complications
Brain Diseases - epidemiology
Caregiver
Child
Child, Preschool
Electroencephalography
Encephalopathy
Epilepsy
Epilepsy - drug therapy
Humans
Infant, Newborn
KCNQ2
KCNQ2 Potassium Channel - genetics
Male
Mutation
Neonatal seizures
Outcome
Phenotype
Severity
Surveys and Questionnaires
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:•Clinical features from the largest cohort of KCNQ2-DEE patients.•Comorbidities defined and collected with the collaboration of caregivers.•Patients divided by severity via cluster analysis regardless of epilepsy phenotype.•Groups with different severity had different epilepsy onset and course.•Report impact of disease on families beyond seizures to identify new outcomes. Variants of KCNQ2 are associated with a wide spectrum of disorders, ranging from Self-limiting Neonatal Epilepsy (SelNE) to Early Onset Developmental and Epileptic Encephalopathy (KCNQ2-DEE). Comorbidities associated with this end of the spectrum have been seldomly described and their impact on the life of patients and their families is yet to be investigated. Collaborating with caregivers from different European family associations, we have developed a questionnaire aimed at investigating the onset and frequency of epileptic seizures, anti-seizure medications (ASM), hospitalizations, stages of development, and comorbidities. Responses from 80 patients, 40 males, from 14 countries have been collected. Median age 7.6 years (4 months – 43.6 years). Of 76 epileptic patients (93.6%), 55.3% were seizure-free with a mean age at last seizure of 26.7 months. Among patients with active epilepsy, those older have a lower frequency of seizures (p > 0.05). We were able to identify three different clusters of varying severity (Mild, Severe, Profound), based on neurodevelopmental features and symptoms, excluding epilepsy. Patients in a higher severity cluster had a higher mean number of comorbidities, which had a higher impact on families. Notably, patients in different clusters presented different epilepsy onset and courses. This study constitutes the most extensive data collection of patients with KCNQ2-DEE, with a focus on comorbidities in a wide age group. The participation of caregivers helps to define the impact of the disease on the lives of patients and families and can help identify new primary and secondary outcomes beyond seizures in future studies.
ISSN:1525-5050
1525-5069
DOI:10.1016/j.yebeh.2023.109153