![]() ![]() Although only accounting for 20% of all neurons, GABAergic interneurons are widely distributed in the CNS, sending out broad inhibitory connections throughout the cortex. GABA, γ-aminobutyric acid, is the primary inhibitory neurotransmitter in the central nervous system (CNS). The data presented here support the link between FS, epilepsy, and GABRG2 variants, shedding light on the relationship between the variant topological occurrence and disease severity. In general, variants in the GABRG2 result in a broad spectrum of phenotypic severity, ranging from asymptomatic, FS, genetic epilepsy with febrile seizures plus (GEFS+), and Dravet syndrome individuals. The loss of GABA A receptor function and dominant negative effect on GABA A receptor biogenesis likely caused the FS phenotype. ![]() The remaining one-third appeared as de novo in the affected probands and occurred only as missense variants. Two-thirds of the GABRG2 variants followed the expected autosomal dominant inheritance in FS and occurred as missense and nonsense variants. Here, we characterized the effects of eight variants in the GABA A receptor γ2 subunit on receptor biogenesis and channel function. We found that among the GABA A receptor subunit ( GABR) genes, most variants associated with FS are harbored in the γ2 subunit ( GABRG2). However, complicated prolonged FS can lead to complex partial epilepsy. FS is a self-limited type of fever-related seizure. Febrile seizures (FS) are the most common form of epilepsy in children between six months and five years of age. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |