Associated Papers
Clinical and Genetic Characteristics of Paroxysmal Kinesigenic Dyskinesia: A Single-Center Study and Literature Review.
Li M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.
Bernardinelli E et al.
Molecular Medicine (cambridge, Mass.), 2025
Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia.
Huang X et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
A novel mutation in ATP13A2 gene in a patient with complicated hereditary spastic paraplegia accompanied by tubulopathy.
Inan B et al.
Acta Neurologica Belgica, 2023
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 2022
EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.
Lo J et al.
Frontiers in Physiology, 2022
Perspectives on the basis of seizure-induced respiratory dysfunction.
Mulkey DK et al.
Frontiers in Neural Circuits, 2022
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
Emerging Roles of Astrocyte Kir4.1 Channels in the Pathogenesis and Treatment of Brain Diseases.
Ohno Y et al.
International Journal of Molecular Sciences, 2021
Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study.
Cucchiara F et al.
Sleep, 2020
Role of Astrocytic Inwardly Rectifying Potassium (Kir) 4.1 Channels in Epileptogenesis.
Kinboshi M et al.
Frontiers in Neurology, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.
Nadella RK et al.
Human Genomics, 2019
Analysis of mutations in the FOXI1 and KCNJ10 genes in infants with a single-allele SLC26A4 mutation.
Zhao X et al.
Bioscience Trends, 2019
EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
Celmina M et al.
Clinical Genetics, 2019
Association study between inwardly rectifying potassium channels 2.1 and 4.1 and autism spectrum disorders.
Sun C et al.
Life Sciences, 2018
A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1.
Binda A et al.
Frontiers in Cellular Neuroscience, 2018
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.
Sicca F et al.
Scientific Reports, 2016
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
The role of glial-specific Kir4.1 in normal and pathological states of the CNS.
Nwaobi SE et al.
Acta Neuropathologica, 2016
Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.
Villa C et al.
Frontiers in Cellular Neuroscience, 2016
Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.
Zaragoza MV et al.
Plos One, 2016
Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder.
Guglielmi L et al.
Frontiers in Cellular Neuroscience, 2015
K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.
D'Adamo MC et al.
Frontiers in Cellular Neuroscience, 2013
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
Landa P et al.
Bmc Medical Genetics, 2013
Major channels involved in neuropsychiatric disorders and therapeutic perspectives.
Imbrici P et al.
Frontiers in Genetics, 2013
Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.
Sicca F et al.
Neurobiology of Disease, 2011