title: Neurological features of 14q24-q32 interstitial deletion: report of a new case.
abstract: BACKGROUND
  Interstitial deletions of the long arm of chromosome 14 involving the 14q24-q32 region have been reported in less than 20 patients. Previous studies mainly attempted to delineate recognizable facial dysmorphisms; conversely, descriptions on neurological features are limited to the presence of cognitive and motor delay, but no better characterization exists.
  
  
  METHODS
  In this paper we report on a patient with a de novo interstitial deletion of 5.5 Mb at 14q24.3-q31.1. The deletion encompasses 84 genes, including fourteen Mendelian genes. He presented with dysmorphic face, developmental delay, paroxysmal non-epileptic events and, subsequently, epilepsy.
  
  
  CONCLUSIONS
  The clinical and molecular evaluation of this patient and the review of the literature expand the phenotype of 14q23-q32 deletion syndrome to include paroxysmal non-epileptic events and infantile-onset focal seizures.
authors.affiliation: Department of Pediatrics and Child Neuropsychiatry, Child Neurology Division, Umberto I Hospital, Sapienza University, Rome, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Nicita
authors.affiliation: U.O.C Anatomia Patologica, AOR Ospedale "San Carlo", Potenza, Italy.
authors.forename: Marilena
authors.initials: M
authors.lastname: Di Giacomo
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
authors.forename: Orazio
authors.initials: O
authors.lastname: Palumbo
authors.affiliation: U.O.C Anatomia Patologica, AOR Ospedale "San Carlo", Potenza, Italy.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Ferri
authors.affiliation: Division of Pediatrics - Ospedale Belcolle- Viterbo, Rome, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Maiorani
authors.affiliation: Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.affiliation: Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Carella
authors.affiliation: Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Capuano
keywords: 14q; EEG; epilepsy; microdeletion; myoclonus; seizures