Queston #6744Note

nocturnal seizures of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADFLE). This is caused by a mutation in the CHRNA genes, which encode neuronal nicotinic acetylcholine receptor (nAChR). As the name implies, it is inherited through an autosomal dominant fashion. Many people with this disorder improve slowly over time, and many do not have any lasting intellectual or other deficits.

SCN1A is a mutation associated with the group of disorders of Genetic Epilepsy with Febrile Seizures Plus (GEFS+), which includes Dravet syndrome, a severe intractable epilepsy. SCN1A mutations are also associated with familial hemiplegic migraine. A mutation in the KCNQ2 gene has been identified in most people with benign familial neonatal seizures (BFNS), characterized by recurrent seizures in babies beginning around day 3 of life and usually resolving within 1-4 months. Lafora progressive myoclonus epilepsy is characterized by recurrent seizures combined with a progressive decline in intellectual function, starting later in childhood or adolescence. Lafora progressive myoclonus epilepsy is caused by NHLRC1 and/or EPM2A gene mutations which encode Malin and Laforin protein, respectively. These proteins have multiple intracellular functions.