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Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.

Evelina CarapanceaMarie-Coralie CornetMathieu MilhLucrezia De CosmoEric J HuangTiziana GranataPasquale StrianoBerten CeulemansAnja SteinDeborah J Morris-RosendahlGreta ContiNipa MitraF Lucy RaymondDavid H RowitchRoberta SolazziFabiana VercellinoPaola De LisoGianluca D'OnofrioClementina BoniverOlivier DanhaiveKatherine CarkeekVincenzo SalpietroSarah WeckhuysenMarny FedrigoAnnalisa AngeliniBarbara CastellottiDamien LedererValérie BenoitFederico RaviglioneRenzo GuerriniRobertino DilenaMaria Roberta Cilio
Published in: Neurology (2023)
encephalopathy allows for prompt workup, appropriate management, and genetic counseling.
Keyphrases
  • early onset
  • genome wide
  • low birth weight
  • copy number
  • gene expression
  • dna methylation
  • preterm birth