Presentation Information
[P1-09-06]A Case of PLPBP Homozygous Variant Presenting with Fever-Triggered Super-Refractory Epilepsy
Hiroshi Matsumoto1, Hiromi Teranishi1, Satomi Ohtaki1, Jun Hirai1, Kaori Sassa1, Konomi Shimoda2, Naoto Nishimura3, Takeshi Mizuguchi3, Naomichi Matsumoto3,4,5, Hideo Yamanouchi1 (1. Department of Pediatrics, Saitama Medical University, Saitama, Japan, 2. Department of Pediatrics, National Rehabilitation Center for Children with Disabilities, Tokyo, Japan, 3. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 4. Department of Rare Disease Genomics, Yokohama City University Hospital, 5. Department of Clinical Genetics, Yokohama City University Hospital)
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