Consensus recommendations on Epilepsy in Phelan-McDermid syndrome

I.F.M. de Coo*, S. Jesse, T.L. Le, C. Sala, Phelan-McDermid European, European Phelan-McDermid Syndrome Consortium

*Corresponding author for this work

Research output: Contribution to journal(Systematic) Review article peer-review


Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities like seizures. The epilepsy manifests itself in a variety of seizure semiologies. Further diagnostics using electroencephalogram (EEG) and brain magnetic resonance imaging (MRI) are important in conjunction with the clinical picture of the seizures to decide whether anticonvulsant therapy is necessary. As part of the development of European consensus guidelines we focussed on the prevalence and semiology of epileptic seizures in PMS associated with a pathogenic variant in the SHANK3 gene or the 22q13 deletion involving SHANK3, in order to then be able to make recommendations regarding diagnosis and therapy.
Original languageEnglish
Article number104746
Number of pages4
JournalEuropean Journal of Medical Genetics
Issue number6
Publication statusPublished - 1 Jun 2023


  • Phelan-McDermid syndrome
  • Epilepsy
  • Regression
  • Electroencephalogram
  • Brain-MRI

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