Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders
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DOI: 10.3390/ijms23126723
Abstract: The inositol 1,4,5-triphosphate receptor type 1 (ITPR1) gene encodes an InsP3-gated calcium channel that modulates intracellular Ca2+ release and is particularly expressed in cerebellar Purkinje cells. Pathogenic variants in the ITPR1 gene are associated with… read more here.
Keywords: cerebellar atrophy; itpr1 related; related disorders; itpr1 ... See more keywords