title: Spectrum of epilepsy in terminal 1p36 deletion syndrome.
abstract: OBJECTIVE
  Previous reports have summarized the seizures types occurring in 1p36 deletion syndrome. To better define the spectrum of epilepsy, we studied 91 patients (median age 7.8 years) with confirmed 1p36 deletion.
  
  
  METHODS
  Based on clinical charts, we retrospectively analyzed the evolution of both the EEG findings and seizures.
  
  
  RESULTS
  Epilepsy occurred in 53 patients (58.2%), with onset at a median 2.75 months. First seizures were generalized tonic (8 cases), tonic and clonic (6) or myoclonic (12), simple partial (6), or complex partial (14). Thereafter, 20 patients (21.9%) developed infantile spasms with hypsarrhythmia, at a median age of 5 months. High doses of oral steroids were tried in nine cases, with a prompt remission of seizures in six. Among them, five were seizure-free at the time of evaluation. Conversely, two of three nonresponders to steroids developed severe and refractory epilepsy. At the time of evaluation, 32 patients were seizure-free, from a median age of 1.8 years. Nineteen patients (20.9%) had developed refractory epilepsy with polymorphic seizures, including generalized tonic and tonic-clonic seizures (13) combined with myoclonic seizures (11) and atypical absences (3), atonic seizures (2), or complex partial seizures (3). The EEG showed focal, multifocal or generalized spikes, polyspike, and waves, with poverty of the usual background rhythmic activities.
  
  
  CONCLUSIONS
  Early epilepsy is a frequent finding in 1p36 deletion syndrome with infantile spasms as of the most common features that can contribute to a poor clinical outcome. Early diagnosis and management of infantile spasm in this condition is mandatory.
authors.affiliation: Department of Pediatric Neurology, Hôpital Necker Enfants Malades, AP-HP, Université Paris V, Paris, France, and INSERM, U663, Paris, France.
authors.forename: Nadia
authors.initials: N
authors.lastname: Bahi-Buisson
authors.forename: Eva
authors.initials: E
authors.lastname: Guttierrez-Delicado
authors.forename: Christine
authors.initials: C
authors.lastname: Soufflet
authors.forename: Marlène
authors.initials: M
authors.lastname: Rio
authors.forename: Valérie Cormier
authors.initials: VC
authors.lastname: Daire
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Delphine
authors.initials: D
authors.lastname: Héron
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.forename: Sameer
authors.initials: S
authors.lastname: Zuberi
authors.forename: Lydie
authors.initials: L
authors.lastname: Burglen
authors.forename: Alexandra
authors.initials: A
authors.lastname: Afenjar
authors.forename: Marie Laure
authors.initials: ML
authors.lastname: Moutard
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.forename: Laura
authors.initials: L
authors.lastname: Bernardini
authors.forename: Olivier
authors.initials: O
authors.lastname: Dulac
authors.forename: Rima
authors.initials: R
authors.lastname: Nabbout
authors.forename: Perrine
authors.initials: P
authors.lastname: Plouin
authors.forename: Agatino
authors.initials: A
authors.lastname: Battaglia
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D015897:Comorbidity; D018572:Disease-Free Survival; D004569:Electroencephalography / Q000706:statistics & numerical data; D004827:Epilepsy / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D004832:Epilepsy, Absence / Q000453:epidemiology / Q000235:genetics; D004829:Epilepsy, Generalized / Q000453:epidemiology / Q000235:genetics; D019305:Epilepsy, Rolandic / Q000453:epidemiology / Q000235:genetics; D004830:Epilepsy, Tonic-Clonic / Q000453:epidemiology / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009006:Monosomy / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D012189:Retrospective Studies; D017384:Sequence Deletion / Q000235:genetics*; D012890:Sleep / Q000502:physiology; D013036:Spasms, Infantile / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D013577:Syndrome