Browsing by Author "ee17bf2e-8a42-479c-9993-e4a14f886c38"

Now showing items 1-2 of 2

    • 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 ...
    • Lateral prefrontal activity as a compensatory strategy for deficits of cortical processing in Attention ... 
      Zamorano, Francisco; Billeke, Pablo; Kausel, Leonie; Larrain, Josefina; Stecher, Ximena; Hurtado, José M.; López, Vladimir; Carrasco Chaparro, Ximena; Aboitiz, Francisco (Nature Publishing Group, 2017)
      Attention Deficit Hyperactivity Disorder (ADHD) is the most common neuropsychiatric disorder in childhood and is characterized by a delay of cortical maturation in frontal regions. In order to investigate interference ...