Increased sensitivity of the neuronal nicotinic receptor alpha2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

Article Abstract:

A clinical and molecular genetic study of the large pedigree segregating sleep-related epilepsy is performed where the seizures are associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking. The positional candidate neuronal cholinergic receptor alpha2 subunit gene (CHRNA2) is the third neuronal cholinergic receptor gene to be associated with familial sleep-related epilepsies and the CHRNA2 mutations are found to cause a more complex and finalized ictal behavior.

Gene mutations, Gene mutation, Epilepsy, Genetic research, Nicotinic receptors

---

Identification of a new locus for medullary cystic disease, on chromosome 16p12

Article Abstract:

A novel locus for autosomal dominant medullary cystic disease (ADMCKD) has been identified through study of an Italian pedigree covering four generations. The locus is on chromosome 16p12, within a critical region of 10.5 cM between D16S500 and SCNN1B1-2. Genetic heterogeneity of the disorder has been established, despite its clinical homogeneity.

Kidney diseases, Kidney, Cystic, Cystic kidney

---

Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate

Article Abstract:

A major susceptibility locus for restless legs syndrome (RLS) is identified at chromosome 2q33 in a South Tyrolean population isolate, by a genomewide linkage scan using nonparametric and parametric analyses of 37 idiopathic RLS cases. The novel locus provides further evidence that RLS is a genetically highly heterogeneous disorder.

Diagnosis, Causes of, Identification and classification, Human chromosomes, Restless legs syndrome, Genetic susceptibility

Similar abstracts:

• Abstracts: A common haplotype in the G-protein-coupled receptor gene GPR74 is associated with leanness and increased lipolysis
• Abstracts: Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele
• Abstracts: Collective bacterial dynamics revealed using a three-dimensional population-scale defocused particle tracking technique
• Abstracts: Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit
• Abstracts: Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.