Associated Papers
Integrated genotype-phenotype function analysis reveals distinct pathogenic mechanisms for cognitive impairment in KCNQ2-related disorders.
Xiong J et al.
Epilepsia, 2026
Neuroimaging to Genetics: Unraveling the Etiology of Cerebral Palsy in Children From Southern Brazil.
Do Valle DA et al.
Journal of Child Neurology, 2026
Cerebellar Hypoplasia and Treatment Course of a Two-Month-Old Infant With KCNQ2 Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature.
Cebeci D et al.
American Journal of Medical Genetics. Part A, 2025
Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations.
Yu X et al.
Epilepsia Open, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ et al.
Orphanet Journal of Rare Diseases, 2023
Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.
Chen J et al.
Journal of Human Genetics, 2023
Pyridoxine-responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review.
Chen J et al.
Molecular Genetics & Genomic Medicine, 2022
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Vanoye CG et al.
Jci Insight, 2022
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review.
Amore G et al.
Frontiers in Neurology, 2022
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C et al.
International Journal of Molecular Sciences, 2021
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.
Malerba F et al.
Neurology. Genetics, 2020
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.
Hengel H et al.
European Journal of Human Genetics : Ejhg, 2020
Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome.
Lazo PA et al.
International Journal of Molecular Sciences, 2020
Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.
Zhang J et al.
Scientific Reports, 2020
A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data.
Laccetta G et al.
Frontiers in Pediatrics, 2019
KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures.
Freibauer A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2018
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.
Staněk D et al.
Orphanet Journal of Rare Diseases, 2018
KCNQ2 encephalopathy: A case due to a de novo deletion.
Spagnoli C et al.
Brain & Development, 2018
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome.
Štěrbová K et al.
Pediatric Neurology, 2017
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Millichap JJ et al.
Neurology. Genetics, 2016
KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2.
Ishii A et al.
Epilepsy Research, 2012
A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.
Ishii A et al.
Brain & Development, 2009