A Breakthrough for Intractable Epilepsy: 100% Accurate Diagnosis

Korea Advanced Institute of Science and Technology (KAIST) medical scientists have recently developed an advanced method for diagnosing patients with intractable epilepsy. According to the study, their method could increase the accuracy up to 100%, unlike the conventional method, which stands at about 30% accuracy.

Epilepsy is a neurological disorder common in children. Approximately one third of child patients are diagnosed with intractable epilepsy, which is when seizures can't be controlled by medicines. Intractable means "not easily managed or relieved." It's also called refractory, uncontrolled, or drug-resistant epileptic seizures. In order to overcome the difficulty of treating intractable epilepsy, Professor Jeong Ho Lee of KAIST, Professor Kang Hoon Chul and Professor Dong Seok Kim of Yonsei University Medical Center, analyzed paired brain and peripheral tissues from 232 intractable epilepsy patients with various brain pathologies at Severance Hospital using deep sequencing. Deep sequencing allowed them to eliminate most of the false positive calls. As a result, the advanced method robustly increased the accuracy and enabled them to detect low-level somatic mutations in formalin fixed paraffin embedded (FFPE) brain samples, the most clinically relevant samples.

Professor Lee said, "This advanced method of genetic analysis will improve overall patient care by providing more comprehensive genetic counseling and informing decisions on alternative treatments." Professor Lee is a co-founder of SoVarGen, Inc., which seeks to develop new diagnostics and therapeutics for brain disorders. The work was supported by grants from the Suh Kyungbae Foundation, a National Research Foundation of Korea grant funded by the Ministry of Science and ICT, the Korean Health Technology R&D Project from the Ministry of Health & Welfare, and the Netherlands Organization for Health Research and Development.

Acta Neuropathologica. 2019 Aug 03. (http://dx.doi.org/10.1007/s00401-019-02052-6)