Browsing by Author "fa9f5000-6212-4ced-9953-6f0b553173c7"

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    • A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction 
      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 ...