Pharmacoresistant epilepsy associated with mutations in the KCNB1 and RELN genes. A case report

Abstract

SUMMARY Introduction. Epilepsy is one of the most common neurological disorders worldwide. In most cases, epilepsy can be well managed. However, there is a number of patients who do not respond well enough to common medical treatments; a situation known as pharmacoresistant epilepsy. It can be caused by mechanisms that may involve environmental and genetic factors, as well as disease or drug related factors. Case presentation. Herein we present a case report of a six-year-old girl who has been diagnosed with pharmacoresistant epilepsy, characterized by generalized and focal seizures while she was on two antiepileptic drugs. Molecular testing, with Next Generation Sequencing (NGS) technique, revealed mutations at KCNB1 and RELN genes.