ArticleAmerican journal of human genetics1995
Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 113 citations in OpenAlex.
- Hypokalemic periodic paralysis triggered by exertion and cold exposure in a resource-limited Ethiopian setting: a case report.Journal of medical case reports · 2026Article
- Genetic Study of a Greek Family with Hypokalemic Periodic Paralysis in Four Generations.Advances in experimental medicine and biology · 2026Article
- Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.Orphanet journal of rare diseases · 2024Article
- Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.Human molecular genetics · 2024Article
- Periodic paralysis.Handbook of clinical neurology · 2024Review
- Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.Journal of neuromuscular diseases · 2024Article
- Article
- PharmGKB summary: very important pharmacogene information for CACNA1S.Pharmacogenetics and genomics · 2020Article
- Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study.NPJ genomic medicine · 2020Article
- Genetic epidemiology of malignant hyperthermia in the UK.British journal of anaesthesia · 2018Article
- Channelopathies of skeletal muscle excitability.Comprehensive Physiology · 2015Review
- Article
- Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis.Brain : a journal of neurology · 2013Article
- A calcium channel mutant mouse model of hypokalemic periodic paralysis.The Journal of clinical investigation · 2012Article
- A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance.Journal of molecular neuroscience : MN · 2012Article
- A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.The Journal of clinical investigation · 2011Article
- The role of CACNA1S in predisposition to malignant hyperthermia.BMC medical genetics · 2009Article
- The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.Journal of Korean medical science · 2007Article
- Hypokalemic periodic paralysis: a model for a clinical and research approach to a rare disorder.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2007Review
- Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.Journal of molecular medicine (Berlin, Germany) · 2005Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases involving the abnormal function of ion channels. This group of muscle diseases also comprises hyperkalemic periodic paralysis and paramyotonia congenita, both sodium-channel diseases, and myotonia congenita, a chloride-channel disorder. HypoPP is characterized by acute attacks of muscle weakness concomitant with a fall in blood potassium levels. We recently localized the hypoPP locus (hypoPP1) to chromosome 1q31-32, in an interval where the alpha 1 subunit of the dihydropyridine receptor calcium channel (CACNL1A3) also maps. Subsequently, deleterious mutations in the voltage-sensor segment S4 were found, establishing the dihydropyridine receptor CACNL1A3 as the causative gene for hypoPP. In this paper, we report the study of 16 hypoPP families of Caucasian origin. We found only two mutations--Arg528His and Arg1239His--that cosegregated with hypoPP, each in half of the families. Analysis of the clinical characteristics of both groups of families demonstrated that incomplete penetrance is a distinctive feature of the Arg528His mutation. Using dinucleotide repeats contained within or close to the dihydropyridine receptor gene, in conjunction with evidence of a de novo Arg1239His mutation, we show that a founder effect is unlikely to account for the two predominant mutations.
Indexed as
Identifiers
7847370PMC1801148W1582683378What 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.