BRAT1 encephalopathy is an ultra-rare autosomal recessive neonatal encephalopathy. We delineate the neonatal electroclinical phenotype at presentation and provide insights for early diagnosis.
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy / Evelina Carapancea, M.C.. - In: NEUROLOGY. - ISSN 0028-3878. - ELETTRONICO. - (2023), pp. 1234-1247. [10.1212/WNL.0000000000206755]
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy
Renzo Guerrini;
2023
Abstract
BRAT1 encephalopathy is an ultra-rare autosomal recessive neonatal encephalopathy. We delineate the neonatal electroclinical phenotype at presentation and provide insights for early diagnosis.
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