title: Seizures and EEG patterns in Pallister-Killian syndrome: 13 new Italian patients.
abstract: OBJECTIVE
  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.
  
  
  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.
authors.affiliation: Child Neuropsychiatric Unit, Civile Hospital, Brescia, Italy.
authors.forename: Lucio
authors.initials: L
authors.lastname: Giordano
authors.forename: Maurizio
authors.initials: M
authors.lastname: Viri
authors.forename: Renato
authors.initials: R
authors.lastname: Borgatti
authors.forename: Monica
authors.initials: M
authors.lastname: Lodi
authors.forename: Patrizia
authors.initials: P
authors.lastname: Accorsi
authors.forename: Francesca
authors.initials: F
authors.lastname: Faravelli
authors.forename: Maria Chiara
authors.initials: MC
authors.lastname: Ferretti
authors.forename: Rita
authors.initials: R
authors.lastname: Grasso
authors.forename: Luigi
authors.initials: L
authors.lastname: Memo
authors.forename: Silvia
authors.initials: S
authors.lastname: Prola
authors.forename: Dario
authors.initials: D
authors.lastname: Pruna
authors.forename: Margherita
authors.initials: M
authors.lastname: Santucci
authors.forename: Salvatore
authors.initials: S
authors.lastname: Savasta
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
authors.forename: Antonino
authors.initials: A
authors.lastname: Romeo
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics / Q000503:physiopathology*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D004569:Electroencephalography; D004576:Electromyography; D005260:Female; D005347:Fibroblasts / Q000187:drug effects / Q000502:physiology; D006801:Humans; D007223:Infant; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D012640:Seizures / Q000209:etiology* / Q000503:physiopathology*; D058670:Tetrasomy / Q000503:physiopathology; D016896:Treatment Outcome