Improvement on BAF53B mutation caused developmental and epileptic encephalopathy with a ketogenic diet

Abstract Genetic mutation is the leading cause of Developmental and Epileptic Encephalopathy (DEE, OMIM 308350), a spectrum of disorders characterized by severe epilepsy and usually begins in infancy, accompanied with psychomotor development arrest and hypsarrhythmia on electroencephalogram (EEG). Up till now, mutations of 101 genes were confirmed as the cause of DEE, and were categorized accordingly into 101 different sub-types (DEE1-101). These genes encode membrane receptors, ion channels, ATP transports and involved in neurotransmitter synthesis etc. Here we report a DEE76 case caused by biallelic BAF53B mutation inherited in an autosomal recessive manner. Seizures commenced on day five and rapidly deteriorated. Patient’s brain magnetic resonance imaging (MRI) revealed rare structural abnormalities, and the EEG confirmed severe epileptiform abnormalities. After a series of therapeutic exploration, the patient has currently followed a ketogenic diet combined treatment, and the DEE associated symptom is now under control. By far most types of DEE still lack of sufficient investigation of their underlying mechanisms and treatment approaches are urgently to be explored. Gene therapy could shed light on rare diseases, yet incompetent to those remain unknown. Here we report a case of DEE76 induced by BAF53B mutations and highlighted the therapeutic potential of ketogenic diet, hoping to enlighten more interest in this field in the future.