ArticleNeurology2014
KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.
Article in Neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 145 citations in OpenAlex.
- Treating the symptom or treating the disease in neonatal seizures: a systematic review of the literature.Italian journal of pediatrics · 2021Pooled it
- Article
- Genetic spectrum and risk factor analysis for drug-resistant of early-onset epilepsy.Translational pediatrics · 2026Article
- Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KEpilepsia open · 2026Article
- Article
- Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing.Journal of clinical neurology (Seoul, Korea) · 2024Article
- Innovative drug discovery strategies in epilepsy: integrating next-generation syndrome-specific mouse models to address pharmacoresistance and epileptogenesis.Expert opinion on drug discovery · 2024Review
- Plural molecular and cellular mechanisms of pore domainbioRxiv : the preprint server for biology · 2024Article
- Neonatal Seizures: New Evidence, Classification, and Guidelines.Epilepsy currents · 2024Review
- MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of MissenseInternational journal of molecular sciences · 2024Article
- The Use of Midazolam as an Antiseizure Medication in Neonatal Seizures: Single Center Experience and Literature Review.CNS & neurological disorders drug targets · 2024Observational
- Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy.Acta pharmacologica Sinica · 2023Article
- Review
- Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy.Frontiers in molecular neuroscience · 2023Article
- KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review.Frontiers in neurology · 2022Article
- Case Report: Effect of Targeted Therapy With Carbamazepine in KCNQ2 Neonatal Epilepsy.Frontiers in neurology · 2022Article
- Clinical Study of 30 NovelFrontiers in molecular neuroscience · 2022Article
- Approach to Neurological Channelopathies and Neurometabolic Disorders in Newborns.Life (Basel, Switzerland) · 2021Review
- PIPCommunications biology · 2021Article
- Genetic Testing in Pediatric Epilepsy.Indian journal of pediatrics · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with severe neonatal-onset epilepsy with intractable seizures and severe psychomotor impairment, termed KCNQ2 encephalopathy.(3,4) This is a rare condition and all patients reported so far were diagnosed well after the neonatal period.(3,4) We report on 3 new cases of KCNQ2 encephalopathy diagnosed in the neonatal period and studied with continuous video-EEG recording. We describe a distinct electroclinical phenotype and report on efficacy of antiepileptic drug (AED) therapies.
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Registered trials
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.