Queston #6744Note

Patient is experiencing nocturnal seizures of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADFLE) 
– caused by a mutation in the CHRNA genes, which encodes neuronal nicotinic AChR
– many people with this improve slowly over time, and many do not have any lasting intellectual or other deficits


SCN1A associated with a group of disorders of Genetic Epilepsy with Febrile Seizures (GEFS+), which includes Dravet syndrome; also associated with familial hemiplegia migraine 

KCNQ2 gene has been identified in most people with benign familial neonatal seizures (BFNS) 
– recurrent seizures in babies around day 3 and usually resolve within 1-4 months 

Lafora progressive myoclonus epilepsy characterized by recurrent seizures and progressive decline in intellectual function, starting later in childhood or adolescence 
– caused by NHLRC1 and/or EPM2A gene mutations which encode Malin and Laroin protein, respectively