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

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

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...

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Bibliographic Details
Main Authors: Gyeong Eun Yeom, Young Hwa Jung, Soo Yeon Kim, Sun Ah Choi, Hunmin Kim, Chang Won Choi
Format: Article
Language:English
Published: Korean Society of Neonatology 2022-11-01
Series:Neonatal Medicine
Subjects:
brat1
muscle hypertonia
whole exome sequencing
preimplantation diagnosis
Online Access:http://neo-med.org/upload/pdf/nm-2022-29-4-141.pdf

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http://neo-med.org/upload/pdf/nm-2022-29-4-141.pdf

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