Toxic gain function
Idiopathic Hypersomnia
Genotype
Sik3
Mechanism
Toxic gain function
Phenotype
Total sleep time, Sleep inertia, Locomotor activity, Cognitive impairment, Anxiety, Touch evoke response
Biomarker
Leptin, Ghrelin, Melatonin, IL-6, Adenosine
Gene Expression Markers
HOMER1a, GAD1, GRIN1, ADORA1, CRH
Physiology Changes
EEG - NREM sleep periods, Transition from wake to NREM sleep, Circadian EEG rhythm
Histology Grading Endpoint
Less neuronal loss, Synaptic density, Changes in cortex structure



