Presentation Information
[P8-06]A case of DEE due to an SCN2A missense variant presenting with punctate white matter lesions in the neonatal period.
○Makoto Nishioka1, Masaru Nasuno1, Nao Chiba1, Naoko Shiba1, Motoko Kamiya1,2, Kyoko Takano2, Daisuke Nakafuji3, Toshiki Takenouchi4,5, Tetsuhiro Fukuyama1 (1.Department of Pediatrics, University of Shinshu, Nagano, Japan, 2.Center for Gene Medicine, University of Shinshu, Nagano, Japan, 3.Center for Clinical Genetics, University of Keio, Tokyo, Japan, 4.Department of Pediatrics, University of Keio, Tokyo, Japan, 5.Department of Pediatric Developmental Pathology, Okayama, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Japan)