Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing

• Main Authors: John Hoon Rim (Author), Se Hee Kim (Author), In Sik Hwang (Author), Soon Sung Kwon (Author), Jieun Kim (Author), Hyun Woo Kim (Author), Min Jung Cho (Author), Ara Ko (Author), Song Ee Youn (Author), Jihun Kim (Author), Young Mock Lee (Author), Hee Jung Chung (Author), Joon Soo Lee (Author), Heung Dong Kim (Author), Jong Rak Choi (Author), Seung-Tae Lee (Author), Hoon-Chul Kang (Author)
• Format: Book
• Published: BMC, 2018-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background We intended to evaluate diagnostic utility of a targeted gene sequencing by using next generation sequencing (NGS) panel in patients with intractable early-onset epilepsy (EOE) and find the efficient analytical step for increasing the diagnosis rate. Methods We assessed 74 patien...