Scn1a - Loss of function, Syngap1 - Loss of function, Pentylenetetrazol -By blocking GABA-mediated inhibition, it increases neuronal excitation
Epilepsy
Genotype
Scn1a, Syngap1, Pentylenetetrazol (PTZ)
Mechanism
Scn1a - Loss of function, Syngap1 - Loss of function, Pentylenetetrazol -By blocking GABA-mediated inhibition, it increases neuronal excitation
Phenotype
Locomotor activity, Erratic swimming, Episodic seizures, Cognitive impairment, Muscle cramps
Biomarker
GFAP, Glutamate, MDA, NSE
Gene Expression Markers
PSD-95, GAD1 / GAD67, GABRA1, c-Fos, Egr1
Physiology Changes
EEG - Seizure Activity - High-amplitude spike-and-wave discharges (SWDs), Burst activity - Paroxysmal burst firing and Alpha/Beta activity
Histology Grading Endpoint
Neuronal loss, Hippocampal damage, Reduced synaptic density



