Associated Papers
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.
Cuillerier A et al.
Clinical Genetics, 2026
Genomics and epilepsy: Opportunities to improve understanding and management.
Sisodiya SM
Developmental Medicine and Child Neurology, 2026
Functional characterization and in vitro pharmacological rescue of a novel KCNA2 variant associated with developmental and epileptic encephalopathy.
Xie C et al.
Neuroscience, 2025
Conifer metabolite pisiferic acid restores activity in human Kv1.2 potassium channels carrying pathogenic sequence variants.
Manville RW et al.
Iscience, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Phenotypic variability and preserved cognition in a family with KCNA2-related developmental epileptic encephalopathy.
Kaki A et al.
Neurogenetics, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.
Xie C et al.
Molecular Neurobiology, 2024
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 2024
An adult with KCNA2-related epilepsy and ataxia.
DeKorver NW et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
Genetic Background of Epilepsy and Antiepileptic Treatments.
Borowicz-Reutt K et al.
International Journal of Molecular Sciences, 2023
Acetazolamide responsive early-onset absence epilepsy and ataxia in a toddler with a KCNA2 genetic variant; a case report.
Balaram N et al.
Seizure, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Modeling Epilepsy Using Human Induced Pluripotent Stem Cells-Derived Neuronal Cultures Carrying Mutations in Ion Channels and the Mechanistic Target of Rapamycin Pathway.
Weng OY et al.
Frontiers in Molecular Neuroscience, 2022
Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.
Ding J et al.
Frontiers in Neurology, 2022
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.
Mastrangelo M et al.
Frontiers in Neurology, 2022
A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine.
Imbrici P et al.
International Journal of Molecular Sciences, 2021
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
Hedrich UBS et al.
Science Translational Medicine, 2021
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo D et al.
International Journal of Molecular Sciences, 2021
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.
Döring JH et al.
International Journal of Molecular Sciences, 2021
Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.
Qaiser F et al.
Brain Communications, 2021
Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants.
Perilli L et al.
Frontiers in Neurology, 2021
Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.
Bahl S et al.
Orphanet Journal of Rare Diseases, 2020
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Ngo KJ et al.
Human Mutation, 2020
Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?
Routier L et al.
Clinical Genetics, 2019
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M et al.
Seizure, 2019
Establishment of a human induced pluripotent stem cell (iPSC) line (HIHDNEi002-A) from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Arg297Gln) mutation.
Schwarz N et al.
Stem Cell Research, 2019
Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation.
Canafoglia L et al.
Seizure, 2019
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
He N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Generation of an induced pluripotent stem cell (iPSC) line from a patient with developmental and epileptic encephalopathy carrying a KCNA2 (p.Leu328Val) mutation.
Schwarz N et al.
Stem Cell Research, 2018
Slc7a5 regulates Kv1.2 channels and modifies functional outcomes of epilepsy-linked channel mutations.
Baronas VA et al.
Nature Communications, 2018
Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.
Niday Z et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2018
Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
Córdoba M et al.
Plos One, 2018
Novel clinical manifestations in patients with KCNA2 mutations.
Sachdev M et al.
Seizure, 2017
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Masnada S et al.
Brain : a Journal of Neurology, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA et al.
Neurology, 2016
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
Helbig KL et al.
Annals of Neurology, 2016
Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.
Hundallah K et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016
In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.
Oliver KL et al.
Neurology. Genetics, 2016
Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.
Villa C et al.
Frontiers in Cellular Neuroscience, 2016
A new tool for prioritization of sequence variants from whole exome sequencing data.
Glanzmann B et al.
Source Code for Biology and Medicine, 2016