First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report

• Main Authors: Gyeong Eun Yeom (Author), Young Hwa Jung (Author), Soo Yeon Kim (Author), Sun Ah Choi (Author), Hunmin Kim (Author), Chang Won Choi (Author)
• Format: Book
• Published: Korean Society of Neonatology, 2022-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by rigidity, intractable multifocal seizures, microcephaly, apnea, and bradycardia immediately after birth. RMFSL is related to a mutation in breast cancer 1-associ...