Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23)

Marcella Broli, Francesca Bisulli, Massimo Mastrangelo, Elena Fontana, Isabella Fiocchi, Claudio Zucca, Maria Clara Bonaglia, Serafino Buono, Sebastiano Antonino Musumeci, Corrado Romano, Santina Reitano, Maria Savio, Girolamo Aurelio Vitello, Bruno Bernardi, Daniela Cevolani, Raffaele Agati, Roberto Poda, Roberto Gallassi, Roberto Giorda, Orsetta ZuffardiBernardo Dalla Bernardina, Marco Seri, Paolo Tinuper

Research output: Contribution to journalArticlepeer-review

Abstract

The aim of this study was to describe in detail the neurological features of nine patients carrying the recently reported microduplication at Xp11.22-11.23. Clinical and neurological examination, brain magnetic resonance imaging (except for two patients), electroencephalography and a neuropsychological assessment specific for language disturbances were performed in nine patients with microduplication at Xp11.22-11.23, disclosed by comparative genomic hybridisation array. Six patients were familial cases belonging to three unrelated pedigrees and three were sporadic cases. The patients had the following characteristics: mild dysmorphic facial features (except for two patients), mental retardation with moderate to severe global language deterioration, electroencephalographic epileptiform discharges during wakefulness and especially during sleep or electrical status epilepticus during slow sleep in younger cases, and negative brain magnetic resonance imaging. The main clinical features of this new microduplication syndrome were mild facial dysmorphisms, from increased electroencephalogram abnormalities during sleep to electrical status epilepticus during slow sleep, and mental retardation mainly involving language function in the absence of detectable brain lesions. In the absence of detectable brain lesions, speech delay may be associated with electrical status epilepticus during slow sleep or, alternatively, related to abnormal brain expression of a dosage-sensitive gene contained within the duplication region.

Original languageEnglish
Pages (from-to)240-251
Number of pages12
JournalEpileptic Disorders
Volume13
Issue number3
DOIs
Publication statusPublished - Sep 2011

Keywords

  • Mental retardation
  • Speech impairment
  • Xp11.22-11.23

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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