A rare cause of epileptic encephalopathy: a beta-propeller protein associated neurodegeneration case with a new mutation and literature review.

In conclusion; Beta-Propeller Protein Associated Neurodegeneration should be considered as an option in the diagnosis of female patients with clinical findings of epilepsy, growth retardation and autism, with unspecified etiology. PMID: 32253879 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/32253879?dopt=Abstract

Source: The Turkish Journal of Pediatrics - April 9, 2020 Category: Pediatrics Authors: Özgün N, Özer L, Yaramış A Tags: Turk J Pediatr Source Type: research