Altered GABAA receptor expression in brainstem nuclei and SUDEP in Gabrg2+/Q390X mice associated with epileptic encephalopathy

Sudden unexpected death in epilepsy (SUDEP) is the leading cause for death in individuals with epilepsy. The frequency of SUDEP correlates with the severity of epilepsies and lack of response to antiepileptic drug treatment, but the underlying mechanisms of SUDEP have not been elucidated fully. GABRG2(Q390X) is a mutation associated with the epileptic encephalopathy Dravet syndrome (DS) and with genetic epilepsy with febrile seizures plus (GEFS+) in patients. The Gabrg2+/Q390X knockin (KI) mouse phenocopies the major features of DS and GEFS+ and has SUDEP throughout life.

Source: Epilepsy Research - April 12, 2016 Category: Neurology Authors: Geqing Xia, Sarah Pourali, Timothy A. Warner, Chun-Qing Zhang, Robert Macdonald, Jing-Qiong Kang Tags: Short communication Source Type: research