Com Brainmun: Accident! A single mutation can lead to epilepsy!

, June 28, 2020 /PRNewswire/
-- Lennox-Gastaut syndrome (LGS) is a severe form of early-onset epilepsy, including cognitive and behavioral abnormalitiesIts pathophysiology is largely unknownrecent sequencing of all exosome groups in patients with Lennox-Gastaut syndrome found spontaneous mutations in the gene of the encoded GABA-A receptor sub-sub-sub-inotheradenic associated with other childhood epilepsyPicture Source:Robert Macdonald, M.D.,Brain Communications, and his colleagues have now created a mouse model with a human GABA-A receptor subunit gene mutationThe mice had spontaneous atypical amorphous seizures and other types of symptoms, and the eGD characteristics were consistent with Lennox-Gastaut syndromeAt the same time, the researchers also observed abnormal behaviors in patients with Lennox-Gastaut syndrome, including impaired learning, memory and social interactions, anxiety and hyperactivityresults published in the journal Brain Communications show that a single mutation in a gene can disrupt inhibitive GABA signals in the brain and lead to multiple types of epilepsy and behavioral abnormalitiesThis mouse model will help further characterize the pathophysiological characteristics of Lennox-Gastaut syndrome and contribute to the development of new therapies(BioValleyBioon.com)References:Shimian Qu et alGABAA a tha a' s3 subunit d120N Seinnox-Gastaut syndrome in knock-in mice, Brain Communications (2020) DOI: 10.1093/braincomms/fcaa028
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