Browsing by Author "e0eb44d1-4594-4a39-be24-9c97e8c4d4b1"
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Sakamoto, Masamune; Kouhei, Den; Haniffa, Muzhirah; Silva, Sebastián; Troncoso Schifferli, Mónica; Santander Vidal, Paola; Schonstedt, Valeria; Stecher, Ximena; Okamoto, Nobuhiko; Hamanaka, Kohei; Mizuguchi, Takeshi; Mitsuhashi, Satomi; Miyake, Noriko; Matsumoto, Naomichi (Nature, 2020)Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies ...