Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy

Author:

Carapancea Evelina1ORCID,Cornet Marie-Coralie1ORCID,Milh Mathieu1ORCID,De Cosmo Lucrezia1ORCID,Huang Eric J.1ORCID,Granata Tiziana1,Striano Pasquale1ORCID,Ceulemans Berten1,Stein Anja1ORCID,Morris-Rosendahl Deborah1ORCID,Conti Greta1,Mitra Nipa1,Raymond F. Lucy1ORCID,Rowitch David H.1ORCID,Solazzi Roberta1,Vercellino Fabiana1,De Liso Paola1ORCID,D'Onofrio Gianluca1ORCID,Boniver Clementina1,Danhaive Olivier1ORCID,Carkeek Katherine1,Salpietro Vincenzo1ORCID,Weckhuysen Sarah1ORCID,Fedrigo Marny1ORCID,Angelini Annalisa1ORCID,Castellotti Barbara1ORCID,Lederer Damien1ORCID,Benoit Valerie1ORCID,Raviglione Federico1ORCID,Guerrini Renzo1ORCID,Dilena Robertino1ORCID,Cilio Maria Roberta1ORCID

Affiliation:

1. From the Institute Of NeuroScience (E.C., M.R.C.), Université Catholique de Louvain, Brussels, Belgium; Department of Pediatrics (M.-C.C.), University of California, San Francisco; Department of Pediatric Neurology (M.M.), Hôpital “La Timone” Enfants, Institut National de la santé et de la Recherche Médicale, Faculté des Sciences Médicales et Paramédicales de la Timone, Aix-Marseille Université, Marseille, France; Department of Neonatology and Neonatal Intensive Care Unit (L.D.C.), Università Degli...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference50 articles.

1. ATM Activation by Ionizing Radiation Requires BRCA1-associated BAAT1

2. Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit

3. RNA-Seq of Coding RNA: Human Developmental Biology Resource (HDBR) Expression Resource of Prenatal Human Brain Development. Accessed May 31, 2022. ebi.ac.uk/gxa/genes/ensg00000106009?bs=%7B%22homo sapiens%22%3A%5B%22ORGANISM_PART%22%5D%7D&ds=%7B%22kingdom%22%3A%5B%22animals%22%5D%7D#baseline.

4. Regulation of ATM/DNA-PKcs Phosphorylation by BRCA1-Associated BAAT1

5. Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

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