Neural stem cell–specific ITPA deficiency causes neural depolarization and epilepsy
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DOI: 10.1172/jci.insight.140229
Abstract: Inosine triphosphate pyrophosphatase (ITPA) hydrolyzes inosine triphosphate (ITP) and other deaminated purine nucleotides to the corresponding nucleoside monophosphates. In humans, ITPA deficiency causes severe encephalopathy with epileptic seizure, microcephaly, and developmental retardation. In this study,… read more here.
Keywords: itpa deficiency; cko mice; mice; itpa cko ... See more keywords