- First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report
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Yeom GE, Jung YH, Kim SY, Choi SA, Kim H, Choi CW
- KMID: 2536660
- Neonatal Med.
- 2022 Nov;29(4):141-148.
- doi: 10.5385/nm.2022.29.4.141
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... -
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