ArticleAmerican journal of human genetics1993
Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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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
11 citing papers in PubMed, 40 citations in OpenAlex.
- Membrane physiology and biophysics-Another milestone.Frontiers in physiology · 2022Article
- Sodium Channelopathies of Skeletal Muscle.Handbook of experimental pharmacology · 2018Review
- Potassium Channels in Epilepsy.Cold Spring Harbor perspectives in medicine · 2016Review
- Recent advances in voltage-gated sodium channels, their pharmacology, and related diseases.Frontiers in pharmacology · 2013Article
- Channelopathies and drug discovery in the postgenomic era.Acta pharmacologica Sinica · 2011Article
- Synaptic conversion of chloride-dependent synapses in spinal nociceptive circuits: roles in neuropathic pain.Pain research and treatment · 2011Article
- Investigation of muscle disease.Journal of neurology, neurosurgery, and psychiatry · 1996Review
- 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.American journal of human genetics · 1995Article
- Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).Human genetics · 1994Article
- Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families.Human genetics · 1994Article
- Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.American journal of human genetics · 1993Article
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
We present a correlation of molecular genetic data (mutations) and genetic data (dinucleotide-repeat polymorphisms) for a cohort of seven hyperkalemic periodic paralysis (HyperPP) and two paramyotonia congenita (PC) families from diverse ethnic backgrounds. We found that each of three previously identified point mutations of the adult skeletal muscle sodium-channel gene occurred on two different dinucleotide-repeat haplotypes. These results indicate that dinucleotide-repeat haplotypes are not predictive of allelic heterogeneity in sodium channelopathies, contrary to previous suggestions. In addition, we identified a HyperPP pedigree in which the dominant disorder was not linked to the sodium-channel gene. Thus, a second locus can give rise to a similar clinical phenotype. Some individuals in this pedigree exhibited a base change causing the nonconservative substitution of an evolutionarily conserved amino acid. Because this change was not present in 240 normal chromosomes and was near another HyperPP mutation, is fulfilled the most commonly used criteria for being a mutation rather than a polymorphism. However, linkage studies using single-strand conformation polymorphism-derived and sequence-derived haplotypes excluded this base change as a causative mutation: these data serve as a cautionary example of potential pitfalls in the delineation of change-of-function point mutations.
Indexed as
Identifiers
8389097PMC1682261W1526006015What 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.