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

• Hauptverfasser: Gyeong Eun Yeom (VerfasserIn), Young Hwa Jung (VerfasserIn), Soo Yeon Kim (VerfasserIn), Sun Ah Choi (VerfasserIn), Hunmin Kim (VerfasserIn), Chang Won Choi (VerfasserIn)
• Format: Buch
• Veröffentlicht: Korean Society of Neonatology, 2022-11-01T00:00:00Z.
• Schlagworte: article
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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...