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J

UPADIA , Jariya

Last name: UPADIA

First name: Jariya

2022 (v1)

Publication

Metadata-only

Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Scala, Marcello Wortmann, Saskia B Kaya, Namik

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible predictors for adverse clinical outcomes. We...

Uploaded on: February 4, 2024