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| First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report |
| Gyeong Eun Yeom, Young Hwa Jung, Soo Yeon Kim, Sun Ah Choi, Hunmin Kim, Chang Won Choi |
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Neonatal Med. 2022;29(4):141-148. Published online November 30, 2022 DOI: https://doi.org/10.5385/nm.2022.29.4.141 |
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First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report Neonatal Medicine. 2022;29(4):141-148  A BRAT1 synonymous mutation affecting exon splicing leads to lethal neonatal rigidity and multifocal seizure syndrome: A Chinese case report. . 2022; Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1 Epilepsy & Behavior Case Reports. 2017;8:31-32 Lethal Neonatal Rigidity and Multifocal Seizure Syndrome—A Misnamed Disorder? Pediatric Neurology. 2015;53(6):535-540 Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema Reproductive BioMedicine Online. 2010;21(5):658-662 Epilepsy of infancy with migrating focal seizures or rigidity and multifocal seizure syndrome, lethal neonatal? Different emphases on a severe phenotype Developmental Medicine & Child Neurology. 2019;62(9):1012-1012 Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome Pediatric Research. 2021;91(3):565-571 Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation European Journal of Paediatric Neurology. 2015;19(2):240-242 First Report of Preimplantation Genetic Diagnosis for Steroid-Resistant Nephrotic Syndrome Journal of Human Genetics and Genomics. 2020;3(1): Preimplantation genetic diagnosis for infertility (preimplantation genetic screening) Preimplantation Genetic Diagnosis. 2009;203-229 |
