MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review

ConclusionMEF2C-related epilepsy may be described as a spectrum of manifestations including febrile seizures, myoclonia, and focal-onset or generalized seizures. Electroencephalogram is consistently abnormal, showing findings such as background slowing, multifocal and generalized epileptiform discharges and polyspikes. It remains unclear whether most patients are responsive or refractory to treatment with anti-epileptic medications.
Source: Seizure - Category: Neurology Source Type: research