Intragenic <i>CAMTA1</i> rearrangements cause non-progressive congenital ataxia with or without intellectual disability

Abstract

The authors have evidence that loss-of-function of CAMTA1, a brain-specific calcium responsive transcription factor, is responsible for NPCA with or without ID. Accession numbers CAMTA1 reference sequence used was ENST00000303635. Protein sequence was ENSP00000306522.