Article
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
Journal of human genetics - 1 Sept 2020
Sakamoto Masamune, Kouhei Den, Haniffa Muzhirah, Silva Sebastián, Troncoso Mónica, Santander Paola, Schonstedt Valeria, Stecher Ximena, Okamoto Nobuhiko, Hamanaka Kohei, Mizuguchi Takeshi, Mitsuhashi Satomi, Miyake Noriko, Matsumoto Naomichi
Abstract excerpt
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 with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices (MIM:616647). ITPase plays an important role in...
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