Extending the use of stiripentol to other epileptic syndromes: a case of PCDH19-related epilepsy

Eur J Paediatr Neurol. 2015 Mar;19(2):248-50. doi: 10.1016/j.ejpn.2014.11.008. Epub 2014 Nov 29.


Stiripentol is an antiepileptic drug (AED) approved by the European Medicines Agency for the treatment of Dravet Syndrome (DS) as adjunct treatment with valproate and clobazam. PCDH19-related epilepsy is an emerging epileptic syndrome characterized by the occurrence of epilepsy in female patients associated with mental retardation and autistic features in most cases. It shares many features with DS: age of onset, normal development before the onset, fever sensitivity, cognitive impairment during the time, drug-resistance. Basing on the numerous similarities between DS and PCDH19-related epilepsy, we tried stiripentol in a nine and half year old female patient with PCDH19-related resistant epilepsy, as add-on treatment to valproate and clobazam. It had a surprising efficacy as the patient had a two years and ten months seizure free period, as never in her epilepsy history. Up to date, clinical trials of stiripentol have been always focused on DS. The delineation of new epileptic syndromes, as PCDH19-related epilepsy, opens new scenarios to the utilization of this AED. This case report is suggestive of a good response of PCDH19-related Epilepsy to stiripentol. However further cases and above all clinical trials are necessary to confirm this result.

Keywords: Antiepileptic drugs; Dravet syndrome; PCDH19-related epilepsy; Stiripentol.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Anticonvulsants / therapeutic use*
  • Autistic Disorder / genetics
  • Autistic Disorder / psychology
  • Benzodiazepines / therapeutic use
  • Cadherins / genetics*
  • Child
  • Clobazam
  • Cognition Disorders / etiology
  • Cognition Disorders / psychology
  • Dioxolanes / therapeutic use*
  • Drug Resistant Epilepsy / drug therapy
  • Drug Therapy, Combination
  • Epilepsies, Myoclonic / drug therapy
  • Epilepsy / drug therapy*
  • Epilepsy / genetics*
  • Female
  • Fever / physiopathology
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / psychology
  • Syndrome
  • Treatment Outcome
  • Valproic Acid / therapeutic use


  • Anticonvulsants
  • Cadherins
  • Dioxolanes
  • PCDH19 protein, human
  • Benzodiazepines
  • Clobazam
  • Valproic Acid
  • stiripentol