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Case Report | 2022-04-01
De novo HCN1 Mutation Identified by Next-Generation Sequencing in a Patient with Early Infantile Epileptic Encephalopathy: Case Report

Hanmil Jang, M.D.¹, Dongju Won, M.D. ¹, Saeam Shin, M.D.¹, Seung-Tae Lee, M.D.¹, Jong Rak Choi, M.D.¹, Joon Soo Lee, M.D. ²

https://doi.org/10.47429/lmo.2022.12.2.134
Lab Med Online 2022; 12(2): 134-137
Keywords:
HCN1, Neurodevelopmental disease, Early infantile epileptic encephalopathy, de novo mutation, Next-generation sequencing

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