Rabbit Anti-Human SCN1A Polyclonal antibody

Neurodevelopmental disorders (NDDs) are characterised by cognitive, social and motor deficits and are highly comorbid with intractable epilepsies. Through advances in genetic sequencing technologies a vast number of genes have been implicated in NDDs. State-of-the-art gene-editing techniques have led to the generation of hundreds of mouse models of NDDs. As an example, rodent models of Rett and Dravet syndromes as well as the syndromes caused by mutations in CDKL5 and Syngapl display cognitive deficits in conjunction with seizure phenotypes. These models allow researchers to understand the underlying mechanisms as well as develop novel treatment strategies that can potentially be translated to the clinic. Furthermore, it may be possible to gain insights into the contribution of epilepsy to the progression of cognitive, social and motor phenotypes in NDDs. (C) 2019 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

ObjectiveSudden unexpected death in epilepsy (SUDEP) is a tragic and devastating event for which the underlying pathophysiology remains poorly understood; this study investigated whether abnormalities in heart rate variability (HRV) are linked to SUDEP in patients with epilepsy due to mutations in sodium channel (SCN) genes. MethodsWe retrospectively evaluated HRV in epilepsy patients using electroencephalographic studies to study the potential contribution of autonomic dysregulation to SUDEP risk. We extracted HRV data, in wakefulness and sleep, from 80 patients with drug-resistant epilepsy, including 40 patients with mutations in SCN genes and 40 control patients with non-SCN drug-resistant epilepsy. From the SCN group, 10 patients had died of SUDEP. We compared HRV between SUDEP and non-SUDEP groups, specifically studying awake HRV and sleep:awake HRV ratios. ResultsThe SUDEP patients had the most severe autonomic dysregulation, showing lower awake HRV and either extremely high or extremely low ratios of sleep-to-awake HRV in a subgroup analysis. A secondary analysis comparing the SCN and non-SCN groups indicated that autonomic dysfunction was slightly worse in the SCN epilepsy group. SignificanceThese findings suggest that autonomic dysfunction is associated with SUDEP risk in patients with epilepsy due to sodium channel mutations. The relationship of HRV to SUDEP merits further study; HRV may eventually have potential as a biomarker of SUDEP risk, which would allow for more informed counseling of patients and families, and also serve as a useful outcome measure for research aimed at developing therapies and interventions to reduce SUDEP risk.