Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review

Rosaria Nardello, Antonina Fontana, Salvatore Mangano, Giuseppe Donato Mangano, Elisa Giorgio, Alfredo Brusco, Alfredo Brusco, Vincenzo Salpietro, Pasquale Striano, Vincenzo Antona

Research output: Contribution to journalArticlepeer-review

Abstract

KBG syndrome (OMIM #148050) is a rare autosomal dominantdisorder, typically characterized by macrodontia of the upper centralincisors, distinct craniofacial findings, short stature, and skeletalanomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome isassociated with mutations in ANKRD11 gene that plays a chromatinregulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain.
Original languageEnglish
Pages (from-to)151-154
Number of pages4
JournalSEIZURE
Volume85
Publication statusPublished - 2020

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

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