title: Ehlers-Danlos syndrome: a cause of epilepsy and periventricular heterotopia.
abstract: OBJECTIVE
  Ehlers-Danlos syndrome (EDS) comprises a variety of inherited connective tissue disorders that have been described in association with various neurological features. Until now the neurological symptoms have not been studied in detail; therefore, the aim of this review is to analyze the possible association between EDS, epilepsy and periventricular heterotopia (PH).
  
  
  METHODS
  We have carried out a critical review of all cases of epilepsy in EDS patients with and without PH.
  
  
  RESULTS
  Epilepsy is a frequent neurological manifestation of EDS; generally, it is characterized by focal seizures with temporo-parieto-occipital auras and the most common EEG findings epileptiform discharges and slow intermittent rhythm with delta-theta waves. Epilepsy in EDS patients is usually responsive to common antiepileptic therapy; very few cases of drug resistant focal epilepsy requested surgical treatment, with favorable results in terms of outcome. Epilepsy is the most common presenting neurological manifestation associated with PH in EDS patients. Abnormal anatomic circuitries (including heterotopic nodules) could generate epilepsy in patients with PH.
  
  
  CONCLUSIONS
  Among the principal neurological manifestations, epilepsy and PH have a considerable importance and can influence the long-term evolution of these patients. We hypothesize that PH may determine the epileptic manifestations in patients with EDS; much remains to be learnt about the relationships between nodules and the epileptic manifestations in EDS syndrome.
authors.affiliation: Department of Pediatrics, University of Perugia, Perugia, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
authors.affiliation: Department of Pediatrics, University of Perugia, Perugia, Italy.
authors.forename: Debora
authors.initials: D
authors.lastname: Monacelli
authors.affiliation: Department of Pediatrics, University of Perugia, Perugia, Italy.
authors.forename: Miriam
authors.initials: M
authors.lastname: Castagnino
authors.affiliation: Child Neurology, NESMOS Department, Chair of Pediatrics, Faculty of Medicine and Psychology, Sapienza University c/o Sant'Andrea Hospital, Via di Grottarossa, 1035-1039, 00189 Rome, Italy.
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: Villa
authors.affiliation: Child Neurology, NESMOS Department, Chair of Pediatrics, Faculty of Medicine and Psychology, Sapienza University c/o Sant'Andrea Hospital, Via di Grottarossa, 1035-1039, 00189 Rome, Italy. Electronic address: pasquale.parisi@uniroma1.it.
authors.forename: Pasquale
authors.initials: P
authors.lastname: Parisi
mesh_terms: D001921:Brain / Q000503:physiopathology*; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004827:Epilepsy / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D054091:Periventricular Nodular Heterotopia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology
keywords: Ehlers–Danlos syndrome; Epilepsy; Nodular heterotopia; Periventricular heterotopia