Article
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Neurology - 21 Mar 2023
Carapancea Evelina, Cornet Marie-Coralie, Milh Mathieu, De Cosmo Lucrezia, Huang Eric J, Granata Tiziana, Striano Pasquale, Ceulemans Berten, Stein Anja, Morris-Rosendahl Deborah, Conti Greta, Mitra Nipa, Raymond F Lucy, Rowitch David H, Solazzi Roberta, Vercellino Fabiana, De Liso Paola, D'Onofrio Gianluca, Boniver Clementina, Danhaive Olivier, Carkeek Katherine, Salpietro Vincenzo, Weckhuysen Sarah, Fedrigo Marny, Angelini Annalisa, Castellotti Barbara, Lederer Damien, Benoit Valerie, Raviglione Federico, Guerrini Renzo, Dilena Robertino, Cilio Maria Roberta
Abstract excerpt
BACKGROUND AND OBJECTIVES: BRAT1 encephalopathy is an ultra-rare autosomal recessive neonatal encephalopathy. We delineate the neonatal electroclinical phenotype at presentation and provide insights for early diagnosis. METHODS: Through a multinational collaborative, we studied a cohort of neonates with encephalopathy associated with biallelic pathogenic variants in BRAT1 for whom detailed clinical,...
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