ArticleNeuroscience2018
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.
Article in Neuroscience, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- A critical residue mediates proper assembly and gating of GIRK2 channels.The Journal of general physiology · 2026Article
- Polymorphisms ofBiomolecules · 2024Article
- Depolarization induces calcium-dependent BMP4 release from mouse embryonic palate mesenchymal cells.Nature communications · 2024Article
- Gain- and loss-of-function alleles within signaling pathways lead to phenotypic diversity among individuals.iScience · 2024Article
- A neurodevelopmental disorder mutation locks G proteins in the transitory pre-activated state.Nature communications · 2024Article
- The scale of zebrafish pectoral fin buds is determined by intercellular K+ levels and consequent Ca2+-mediated signaling via retinoic acid regulation of Rcan2 and Kcnk5b.PLoS biology · 2024Article
- Direct modulation of G protein-gated inwardly rectifying potassium (GIRK) channels.Frontiers in physiology · 2024Review
- Buffering of genetic dominance by allele-specific protein complex assembly.Science advances · 2023Article
- Expanding the spectrum of KCNJ6-related disorders: Milder phenotype with pathological startle responses.Clinical genetics · 2023Article
- Lipodystrophy-associated progeroid syndromes.Hormones (Athens, Greece) · 2022Review
- GIRK2 Channels in Down Syndrome and Alzheimer's Disease.Current Alzheimer research · 2022Article
- Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects.Neurogenetics · 2021Article
- Structural insights into GIRK2 channel modulation by cholesterol and PIPCell reports · 2021Article
- Advances in Targeting GIRK Channels in Disease.Trends in pharmacological sciences · 2021Review
- Comparison of KHandbook of experimental pharmacology · 2021Article
- Identification of a G-Protein-Independent Activator of GIRK Channels.Cell reports · 2020Article
- Disease Associated Mutations in KBiomolecules · 2019Review
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 5 countries.
Funding
Abstract
Here, we describe a fourth case of a human with a de novo KCNJ6 (GIRK2) mutation, who presented with clinical findings of severe hyperkinetic movement disorder and developmental delay, similar to the Keppen-Lubinsky syndrome but without lipodystrophy. Whole-exome sequencing of the patient's DNA revealed a heterozygous de novo variant in the KCNJ6 (c.512T>G, p.Leu171Arg). We conducted in vitro functional studies to determine if this Leu-to-Arg mutation alters the function of GIRK2 channels. Heterologous expression of the mutant GIRK2 channel alone produced an aberrant basal inward current that lacked G protein activation, lost K
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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.