ArticleAnnals of clinical and translational neurology2021
KCNQ2-DEE: developmental or epileptic encephalopathy?
Article in Annals of clinical and translational neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 45 citations in OpenAlex.
- Patient outcomes in KCNQ2 developmental and epileptic encephalopathy.Developmental medicine and child neurology · 2026Review
- Assessment of gabapentin efficacy in patients with KCNQ2-developmental epileptic encephalopathy.Scientific reports · 2026Article
- KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.Epilepsia open · 2026Article
- Article
- Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KEpilepsia open · 2026Article
- Caregiver-reported quality of life in individuals with developmental and epileptic encephalopathy and other severe neurodevelopmental encephalopathies.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- Caregiver-reported meaningful change in functional domains for individuals with developmental and epileptic encephalopathy: A convergent mixed-methods design.Developmental medicine and child neurology · 2025Article
- Long-term outcomes of a cohort of patients with pharmacoresistant neonatal epilepsy and negative brain MRI.Epilepsia open · 2025Article
- Persistent Na+ current couples spreading depolarization to seizures in Scn8a gain-of-function mice.Brain : a journal of neurology · 2025Article
- Article
- Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol.Systematic reviews · 2024Article
- In Silico Methods for the Discovery of Kv7.2/7.3 Channels Modulators: A Comprehensive Review.Molecules (Basel, Switzerland) · 2024Review
- Plural molecular and cellular mechanisms of pore domainbioRxiv : the preprint server for biology · 2024Article
- Phox2b-expressing neurons contribute to breathing problems in Kcnq2 loss- and gain-of-function encephalopathy models.Nature communications · 2023Article
- Impressive efficacy of the ketogenic diet in a KCNQ2 encephalopathy infant: a case report and exhaustive literature review.Translational pediatrics · 2023Article
- KCNQ2 channels regulate the population activity of neonatal GABAergic neuronsFrontiers in neurology · 2023Article
- Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy.Frontiers in molecular neuroscience · 2023Article
- Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms.Frontiers in molecular neuroscience · 2023Review
- Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused byHGG advances · 2022Article
- CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.CNS drugs · 2022Review
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveKCNQ2-associated developmental and epileptic encephalopathies (DEE) present with seizures and developmental impairments. The relation between seizures and functional impairments in affected children and the relation of a specific genetic variant to seizure control remains unknown.
methodsParents of children with documented KCNQ2 variants who participated in a structured, online natural history survey provided information about seizure history, functional mobility, hand use, communication function, and feeding independence. Bivariate analyses were performed with nonparametric methods and logistic regression was used for multivariable analyses.
resultsThirty-nine children (20, 51% girls, median age 4.5 years, interquartile range (IQR) 1.9-19.3) had a median age of seizure onset of 1 day (IQR 1-3 days). The most common seizure types were bilateral tonic-clonic (N = 72, 28%) and bilateral tonic (N = 13, 33%). Time since last seizure was <6 months (N = 18, 46%), 6-23 months (N = 11, 28%), and ≥24 months (N = 10 26%). Severe functional impairment was reported for mobility (62%), hand grasp (31%), feeding (59%), and communication (77%). Twenty-eight (72%) were impaired in ≥2 domains. There were only weak and inconsistent associations between seizure recency and individual impairments or number of impairments after adjustment for other factors. The functional location of the variants within the K
interpretationSeizures in KCNQ2-DEE are often well-controlled, but children have severe impairments regardless. With the increased potential for precision therapies targeting the K
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.