Cargando…

A KCNC1‐related neurological disorder due to gain of Kv3.1 function

OBJECTIVE: To further clarify genotype:phenotype correlations associated with variants in KCNC1 encoding the voltage‐gated potassium (K+) channel subunit Kv3.1 and which are an emerging cause of a spectrum of neurological disease including intellectual disability, isolated myoclonus, progressive myo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Clatot, Jerome, Ginn, Natalie, Costain, Gregory, Goldberg, Ethan M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9852383/ https://www.ncbi.nlm.nih.gov/pubmed/36419348 http://dx.doi.org/10.1002/acn3.51707

Ejemplares similares

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum
por: Park, Joohyun, et al.
Publicado: (2019)

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations
por: Cameron, Jillian M., et al.
Publicado: (2019)

Methylation gene KCNC1 is associated with overall survival in patients with seminoma
por: Chen, Saipeng, et al.
Publicado: (2021)

Progressive myoclonus epilepsy KCNC1 variant causes a developmental dendritopathy
por: Carpenter, Jenna C., et al.
Publicado: (2021)

Kv3.1 and Kv3.4, Are Involved in Cancer Cell Migration and Invasion
por: Song, Min Seok, et al.
Publicado: (2018)

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants
por: Schwarz, Niklas, et al.
Publicado: (2022)

The Selectivity Filter Is Involved in the U-Type Inactivation Process of Kv2.1 and Kv3.1 Channels
por: Coonen, Laura, et al.
Publicado: (2020)

Effects of rosiglitazone, an antidiabetic drug, on Kv3.1 channels
por: Lee, Hyang Mi, et al.
Publicado: (2023)

A missense mutation in Kcnc3 causes hippocampal learning deficits in mice
por: Xu, Pin, et al.
Publicado: (2022)

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy
por: Seiffert, Simone, et al.
Publicado: (2023)

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)
por: Figueroa, Karla P., et al.
Publicado: (2011)

Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases
por: Duarri, Anna, et al.
Publicado: (2015)

Emerging evidence of genotype–phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G
por: Wang, Sumei, et al.
Publicado: (2022)

Kv3.1b and Kv3.3 channel subunit expression in murine spinal dorsal horn GABAergic interneurones
por: Nowak, A., et al.
Publicado: (2011)

Knockdown of lnc-KCNC3-3:1 Alleviates the Development of Atherosclerosis via Downregulation of JAK1/STAT3 Signaling Pathway
por: Sun, Limin, et al.
Publicado: (2021)

Expression and Localization of Kv1.1 and Kv3.1b Potassium Channels in the Cochlear Nucleus and Inferior Colliculus after Long-Term Auditory Deafferentation
por: Poveda, Clara M., et al.
Publicado: (2020)

Antidepressant drug paroxetine blocks the open pore of Kv3.1 potassium channel
por: Lee, Hyang Mi, et al.
Publicado: (2018)

Differential Kv1.3, KCa3.1, and Kir2.1 expression in “classically” and “alternatively” activated microglia
por: Nguyen, Hai M., et al.
Publicado: (2016)

Cryo-EM structure of the human Kv3.1 channel reveals gating control by the cytoplasmic T1 domain
por: Chi, Gamma, et al.
Publicado: (2022)

Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene
por: Li, Shao, et al.
Publicado: (2023)

An integrative study identifies KCNC2 as a novel predisposing factor for childhood obesity and the risk of diabetes in the Korean population
por: Hwang, Joo-Yeon, et al.
Publicado: (2016)

LINC01535 Promotes the Development of Osteosarcoma Through Modulating miR-214-3p/KCNC4 Axis
por: Yao, Xiaoke, et al.
Publicado: (2020)

The ladder-shaped polyether toxin gambierol anchors the gating machinery of Kv3.1 channels in the resting state
por: Kopljar, Ivan, et al.
Publicado: (2013)

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes
por: Li, Xiaoyang, et al.
Publicado: (2021)

The Schizophrenia-Associated Kv11.1-3.1 Isoform Results in Reduced Current Accumulation during Repetitive Brief Depolarizations
por: Heide, Juliane, et al.
Publicado: (2012)

Potassium channels Kv1.3 and KCa3.1 cooperatively and compensatorily regulate antigen-specific memory T cell functions
por: Chiang, Eugene Y., et al.
Publicado: (2017)

Regulation of K(+) Conductance by a Hydrogen Bond in Kv2.1, Kv2.2, and Kv1.2 Channels
por: Zhang, Yuchen, et al.
Publicado: (2021)

Toe Walking as the Initial Symptom of a Spinocerebellar Ataxia 13 in a Patient Presenting with a Mutation in the KCNC3 Gene
por: Pomarino, David, et al.
Publicado: (2021)

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants
por: Mukherjee, Souhrid, et al.
Publicado: (2022)

Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing
por: Mehinovic, Elvisa, et al.
Publicado: (2022)

Auxiliary KCNE subunits modulate both homotetrameric Kv2.1 and heterotetrameric Kv2.1/Kv6.4 channels
por: David, Jens-Peter, et al.
Publicado: (2015)

Pharmacological modulation of Kv3.1 mitigates auditory midbrain temporal processing deficits following auditory nerve damage
por: Chambers, Anna R., et al.
Publicado: (2017)

Compromised N-Glycosylation Processing of Kv3.1b Correlates with Perturbed Motor Neuron Structure and Locomotor Activity
por: Issa, Fadi A., et al.
Publicado: (2021)

Oligomerization and Spatial Distribution of Kvβ1.1 and Kvβ2.1 Regulatory Subunits
por: Roig, Sara R., et al.
Publicado: (2022)

The voltage-dependent K(+) channels Kv1.3 and Kv1.5 in human cancer
por: Comes, Núria, et al.
Publicado: (2013)

Remodeling of Kv7.1 and Kv7.5 Expression in Vascular Tumors
por: Serrano-Novillo, Clara, et al.
Publicado: (2020)

Klaviersonaten, KV 310, KV 333, KV 545
por: Mozart, Wolfgang Amadeus, 1756-1791
Publicado: (1989)

Cross Pharmacological, Biochemical and Computational Studies of a Human Kv3.1b Inhibitor from Androctonus australis Venom
por: Maatoug, Sonia, et al.
Publicado: (2021)

Ankyrin-R regulates fast-spiking interneuron excitability through perineuronal nets and Kv3.1b K(+) channels
por: Stevens, Sharon R, et al.
Publicado: (2021)

Kv5, Kv6, Kv8, and Kv9 subunits: No simple silent bystanders
por: Bocksteins, Elke
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_5enb452og70menoqnlferc11ds