A clinical case of epilepsy in a female patient with double mutations in the SCN2A and PCDH19 genes

Abstract

The paper describes a 6-year-old female patient with epilepsy caused by mutations in the SCN2A and PCDH19 genes, which clinically appears as epileptic seizures, drug-resistant epilepsy, secondary microcephaly, mental retardation, and autism. It reviews the literature regarding both mutations. World literature lacks publications on a combination of two SCN2A and PCDH19 mutations in one female patient with epileptic encephalopathies.

Keywords

• genetic epileptic encephalopathies in children
• epilepsy
• video eeg monitoring
• frequent and severe epileptic seizures
• interictal epileptiform eeg activity
• obvious growth retardation with autistic behavior