Recessive ITPA Mutations Cause an Early Infantile Encephalopathy

S.H. Kevelam, J. Bierau, R. Salvarinova, S. Agrawal, T. Honzik, D. Visser, M.M. Weiss, G. Salomons, T.E.M. Abbink, Q. Waisfisz, M.S. van der Knaap

Research output: Contribution to JournalArticleAcademicpeer-review


Objective To identify the etiology of a novel, heritable encephalopathy in a small group of patients. Methods Magnetic resonance imaging (MRI) pattern analysis was used to select patients with the same pattern. Homozygosity mapping and whole exome sequencing (WES) were performed to find the causal gene mutations. Results Seven patients from 4 families (2 consanguineous) were identified with a similar MRI pattern characterized by T
Original languageEnglish
Pages (from-to)649-658
JournalAnnals of Neurology
Issue number4
Publication statusPublished - 2015


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