ArticleBalkan medical journal2018
Expanding the Phenotype of Homozygous
Article in Balkan medical journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Intellectual Disability and Potassium Channelopathies: A Systematic Review.Frontiers in genetics · 2020Pooled it
- Mixed Movement Disorder in a Patient With a Novel Biallelic KCNMA1 Splice-Site Variant: Expanding the Genotype-Phenotype Correlation.Journal of movement disorders · 2026Article
- Deregulated ion channels contribute to RHOBTB2-associated developmental and epileptic encephalopathy.Human molecular genetics · 2025Article
- Structural mapping of patient-associated KCNMA1 gene variants.Biophysical journal · 2024Article
- BK Channelopathies andAnnual review of physiology · 2024Review
- Genetic Links to Episodic Movement Disorders: Current Insights.The application of clinical genetics · 2023Review
- KCurrent neuropharmacology · 2023Review
- Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.Human genomics · 2022Article
- Review
- Article
- Neuronal mechanism of a BK channelopathy in absence epilepsy and dyskinesia.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Effect of an autism-associatedCurrent research in physiology · 2022Article
- An emerging spectrum of variants and clinical features inChannels (Austin, Tex.) · 2021Review
- Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.Molecular genetics & genomic medicine · 2021Article
- Genetic updates on paroxysmal dyskinesias.Journal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Paroxysmal Movement Disorders.Frontiers in neurology · 2021Review
- BK Channel Gating Mechanisms: Progresses Toward a Better Understanding of Variants Linked Neurological Diseases.Frontiers in physiology · 2021Review
- A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled With Stimulant Therapy.Movement disorders : official journal of the Movement Disorder Society · 2020Article
- Brain-specific repression of AMPKα1 alleviates pathophysiology in Alzheimer's model mice.The Journal of clinical investigation · 2020Article
- Loss-of-function BK channel mutation causes impaired mitochondria and progressive cerebellar ataxia.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe CASE REPORT: Here, we report the case of a patient with a novel homozygous truncating mutation in KCNMA1 (p.Arg458Ter) presenting with both the loss- and gain-of-function phenotype with paroxysmal dyskinesia, epilepsy, intellectual delay, and corticospinal–cerebellar tract atrophy.
conclusionThis report extends the
Indexed as
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What OpenQuestion holds
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.