Article
Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.
Neuropediatrics - 1 Dec 2020
Aslanger Ayca Dilruba, Demiral Emine, Sonmez-Sahin Seyma, Guler Serhat, Goncu Beyza, Yucesan Emrah, Iscan Akın, Saltik Sema, Yesil Gozde
Abstract excerpt
Biallelic mutations in the TRAPPC12 gene are responsible for early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS). To date, three different allelic variants have been reported. Next-generation sequencing allowed discovery of unique alternations in this gene with different phenotypes. We report two patients carrying TRAPPC12 variants, one previously reported and one unknown mutation,...
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