Seizures and EEG patterns in Pallister-Killian syndrome: 13 New Italian patients

Lucio Giordano, Maurizio Viri, Renato Borgatti, Monica Lodi, Patrizia Accorsi, Francesca Faravelli, Maria Chiara Ferretti, Rita Grasso, Luigi Memo, Silvia Prola, Dario Pruna, Margherita Santucci, Salvatore Savasta, Alberto Verrotti, Antonino Romeo

Research output: Contribution to journalArticlepeer-review


Background and objectives: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by a tissue-limited mosaic supernumerary isochromosome 12p. Typical facial dysmorphisms, pigmentary abnormalities, and some major malformations are frequently present. Neurological manifestations include mental retardation, hypotonia, and seizures. Epilepsy incidence ranged from 39 to 59% in a previously reported series. No specific clinical and EEG phenotype has ever been reported to describe seizure features, electroclinical patterns, and response to therapy in PKS. Methods: This was a multicentre study conducted on 13 Italian children with PKS, as diagnosed by clinical phenotype and confirmed in cultured fibroblasts. All patients underwent several polygraphic video-EEG recordings and brain magnetic resonance imaging. Results and conclusions: All the patients presented with epilepsy and seizures that started at a mean age of 19 months. In six cases, epilepsy started with epileptic spasms (ES) combined with focal seizures in another case. In four cases, seizures were focal, and this was followed by ES in two patients. In only two cases, epilepsy started with myoclonic seizures, and spasms were never observed. The study provides further evidence that epilepsy is a part of the phenotype of PKS, although a specific clinical and EEG pattern could not be identified. Our cases show how ES with late- or first-year onset is the most common type of seizure. Despite a variable prognosis in terms of response to therapy, a significant proportion of patients achieved good seizure control.

Original languageEnglish
Pages (from-to)636-641
Number of pages6
JournalEuropean Journal of Paediatric Neurology
Issue number6
Publication statusPublished - Nov 2012


  • Epilepsy
  • Epileptic spasms
  • Focal epilepsy
  • Mental retardation
  • Pallister-Killian syndrome
  • Tetrasomy 12 p

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health


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