Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene
Related Experiment Video
Updated: Feb 15, 2026

03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
4.3K
Xiao-Meng Yin1, Jing-Han Lin2, Li Cao3
1Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
Human Molecular Genetics
|January 20, 2018
Abstract
No abstract available in PubMed .
Related Concept Videos
Gene Families
10.0K
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
10.0K
Gene Families
3.9K
3.9K
Protein Families
17.2K
Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism. Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members. If these new proteins contain similar amino acids in key...
17.2K
Protein Families
4.5K
4.5K
Mutation, Gene Flow, and Genetic Drift
64.7K
In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
64.7K
Mutations
94.7K
Overview
94.7K

