Associated Papers
A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies.
Marchionni E et al.
Neurogenetics, 2026
Biophysical and structural mechanisms of epilepsy-associated mutations in the S4-S5 Linker of KCNQ2 channels.
Lee IC et al.
Channels (austin, Tex.), 2025
Electrophysiological Abnormalities and Pharmacological Corrections of Pathogenic Missense Variants in KCNQ3.
Wu X et al.
Neuroscience Bulletin, 2025
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Potassium channels and autism spectrum disorder: An overview.
Cheng P et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2021
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S et al.
International Journal of Molecular Sciences, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate.
Miceli F et al.
Frontiers in Physiology, 2020
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
Autism throughout genetics: Perusal of the implication of ion channels.
Daghsni M et al.
Brain and Behavior, 2018
Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.
Landoulsi Z et al.
Neurogenetics, 2018
De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.
Butler KM et al.
Epilepsy Research, 2017
Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.
Coll M et al.
Plos One, 2017
Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.
Di Gioia SA et al.
Scientific Reports, 2015
Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder.
Guglielmi L et al.
Frontiers in Cellular Neuroscience, 2015
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.
Gilling M et al.
Frontiers in Genetics, 2013
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Lemke JR et al.
Epilepsia, 2012
Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes.
Hahn A et al.
Brain & Development, 2009
Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures.
Miceli F et al.
Neurobiology of Disease, 2009
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.
Neubauer BA et al.
Neurology, 2008