A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, Schonstedt V, Stecher X, Okamoto N, Hamanaka K, Mizuguchi T, Mitsuhashi S, Miyake N, Matsumoto N.
Sakamoto M, et al. Among authors: stecher x.
J Hum Genet. 2020 Sep;65(9):751-757. doi: 10.1038/s10038-020-0765-3. Epub 2020 May 14.
J Hum Genet. 2020.
PMID: 32405030