The PRICKLE1 gene is a gene listed in the Online Mendelian Inheritance in Man (OMIM) database. This gene is involved in the development and regulation of various health conditions, including ataxia, epilepsy, myoclonus, and progressive myoclonic epilepsy (PME). Studies have…
Sporadic hemiplegic migraine (SHM) is a rare form of migraine with aura that is characterized by temporary paralysis or weakness on one side of the body. This condition is different from other types of migraines because it is associated with…
Anencephaly is a rare condition that occurs during early development in which the neural tube, a structure that eventually forms the brain and spinal cord, fails to close completely. This results in the absence of a major portion of the…
When certain disorders seem to run in a family, it often raises questions about the role of genetics in their development. Genetics is a branch of biology that deals with the study of genes, heredity, and variation in living organisms.…
The NLRP7 gene, also known as the NALP7 gene, is a member of the interleukin-1 family of genes. It is related to other genes that are involved in regulating the immune system, such as the pyrin and NOD-like receptor (NLR)…
The CHD2 gene, also known as Chromodomain Helicase DNA Binding Protein 2, has been identified as a key contributor to a variety of health conditions. In recent years, research has linked mutations in the CHD2 gene to several neurological disorders,…
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder that affects the connective tissues in the body. It is caused by mutations in the ABCC6 gene, which is responsible for the production of an enzyme that helps regulate the flow of…
The NHLRC1 gene, also known as EPM2B, is a gene that is responsible for a variant of progressive myoclonus epilepsy. This gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog and is associated with the condition known…
A genetic condition is a disorder or disease that is caused by changes or abnormalities in an individual’s DNA, genes, or chromosomes. There are several different ways in which a genetic condition can be inherited from one generation to the…
Russell-Silver syndrome (RSS) is a rare genetic condition that is characterized by slow growth, distinct facial features, and other physical and developmental abnormalities. It was first described in 1953 by Dr. Henry Silver and Dr. Alexander Russell. RSS affects an…