ArticleFrontiers in genetics2013
Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.
Article in Frontiers in genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 54 citations in OpenAlex.
- The novel role of GADD45A in the etiology of autism: modulating neuronal excitability via TET1/R-loop dependent regulation of KCNQ5.Molecular psychiatry · 2026Article
- A de novo KCNA3 and an inherited KCNQ3 missense variant causing a developmental and epileptic encephalopathy, intellectual disability, and behavioral anomalies.Neurogenetics · 2026Article
- Electrophysiological Abnormalities and Pharmacological Corrections of Pathogenic Missense Variants in KCNQ3.Neuroscience bulletin · 2025Article
- Circuit-based intervention corrects excessive dentate gyrus output in the fragile X mouse model.eLife · 2024Article
- Association of genetic variants with autism spectrum disorder in Japanese children revealed by targeted sequencing.Frontiers in genetics · 2024Article
- Circuit-based intervention corrects excessive dentate gyrus output in the Fragile X mouse model.bioRxiv : the preprint server for biology · 2023Article
- Article
- Gain of function due to increased opening probability by twoProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Place fields of single spikes in hippocampus involve Kcnq3 channel-dependent entrainment of complex spike bursts.Nature communications · 2021Article
- Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.Brain sciences · 2021Article
- Chemical modulation of Kv7 potassium channels.RSC medicinal chemistry · 2021Review
- An Overview of the Main Genetic, Epigenetic and Environmental Factors Involved in Autism Spectrum Disorder Focusing on Synaptic Activity.International journal of molecular sciences · 2020Review
- Multiple Domains in the Kv7.3 C-Terminus Can Regulate Localization to the Axon Initial Segment.Frontiers in cellular neuroscience · 2020Article
- The Role of KFrontiers in physiology · 2020Review
- Increased Expression of Kv10.2 in the Hippocampus Attenuates Valproic Acid-Induced Autism-Like Behaviors in Rats.Neurochemical research · 2019Article
- Cilantro leaf harbors a potent potassium channel-activating anticonvulsant.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- A Kinetic Map of the Homomeric Voltage-Gated Potassium Channel (Kv) Family.Frontiers in cellular neuroscience · 2019Article
- Autism throughout genetics: Perusal of the implication of ion channels.Brain and behavior · 2018Review
- Loss of the Chr16p11.2 ASD candidate geneMolecular autism · 2018Article
- Formation of Functional Heterodimers by TREK-1 and TREK-2 Two-pore Domain Potassium Channel Subunits.The Journal of biological chemistry · 2016Article
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 3 countries.
Funding
Abstract
Heterozygous mutations in the KCNQ3 gene on chromosome 8q24 encoding the voltage-gated potassium channel KV7.3 subunit have previously been associated with rolandic epilepsy and idiopathic generalized epilepsy (IGE) including benign neonatal convulsions. We identified a de novo t(3;8) (q21;q24) translocation truncating KCNQ3 in a boy with childhood autism. In addition, we identified a c.1720C > T [p.P574S] nucleotide change in three unrelated individuals with childhood autism and no history of convulsions. This nucleotide change was previously reported in patients with rolandic epilepsy or IGE and has now been annotated as a very rare SNP (rs74582884) in dbSNP. The p.P574S KV7.3 variant significantly reduced potassium current amplitude in Xenopus laevis oocytes when co-expressed with KV7.5 but not with KV7.2 or KV7.4. The nucleotide change did not affect trafficking of heteromeric mutant KV7.3/2, KV7.3/4, or KV7.3/5 channels in HEK 293 cells or primary rat hippocampal neurons. Our results suggest that dysfunction of the heteromeric KV7.3/5 channel is implicated in the pathogenesis of some forms of autism spectrum disorders, epilepsy, and possibly other psychiatric disorders and therefore, KCNQ3 and KCNQ5 are suggested as candidate genes for these disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.