A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation

Lorenzo Ferri, Francesca Bisulli, Roberto Mai, Laura Licchetta, Chiara Leta, Lino Nobili, Barbara Mostacci, Tommaso Pippucci, Paolo Tinuper

Research output: Contribution to journalArticle

Abstract

Purpose Dishevelled EGL-10 and pleckstrin domain-containing protein 5 (DEPDC5) mutations are found in a wide spectrum of focal epilepsies ranging from epilepsy caused by malformation of cortical development to non-lesional epilepsy, including sleep-related hypermotor epilepsy (SHE). A surgical approach has been anecdotally reported in patients with DEPDC5 mutations, but most of these cases had a lesional etiology. Methods We describe a stereo-EEG (SEEG) study in a patient with drug-resistant/non-lesional SHE. Patient was screened for known mutations associated with SHE. Results SEEG disclosed bilateral synchronous and independent activity prevailing on the right central-anterior cingulate cortex, without a clear spatially defined epileptogenic zone. Due to the lack of a clear epileptogenic zone, surgery was contraindicated. Years later a DEPDC5 mutation was identified. Conclusion We suggest that genetic analysis should be considered before performing SEEG study in a patient with drug resistant non-lesional SHE, in the presence of seizures in wakefulness and unclear anatomo-electroclinical correlation. If DEPDC5 mutations are identified, the presurgical evaluation should be tailored to look for MRI-negative focal cortical dysplasia and a wide epileptogenic network. The appropriate management and potential benefit of surgery for genetic non-lesional epilepsy have yet to be clarified.

Original languageEnglish
Pages (from-to)51-54
Number of pages4
JournalSeizure
Volume53
DOIs
Publication statusPublished - Dec 1 2017

Fingerprint

Electroencephalography
Epilepsy
Sleep
Mutation
Malformations of Cortical Development
Partial Epilepsy
Wakefulness
Gyrus Cinguli
platelet protein P47
Protein Domains
Pharmaceutical Preparations
Seizures

Keywords

  • DEPDC5
  • Focal cortical dysplasia
  • Genetic epilepsy surgery
  • SEEG
  • SHE

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation. / Ferri, Lorenzo; Bisulli, Francesca; Mai, Roberto; Licchetta, Laura; Leta, Chiara; Nobili, Lino; Mostacci, Barbara; Pippucci, Tommaso; Tinuper, Paolo.

In: Seizure, Vol. 53, 01.12.2017, p. 51-54.

Research output: Contribution to journalArticle

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AU - Bisulli, Francesca

AU - Mai, Roberto

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AU - Leta, Chiara

AU - Nobili, Lino

AU - Mostacci, Barbara

AU - Pippucci, Tommaso

AU - Tinuper, Paolo

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N2 - Purpose Dishevelled EGL-10 and pleckstrin domain-containing protein 5 (DEPDC5) mutations are found in a wide spectrum of focal epilepsies ranging from epilepsy caused by malformation of cortical development to non-lesional epilepsy, including sleep-related hypermotor epilepsy (SHE). A surgical approach has been anecdotally reported in patients with DEPDC5 mutations, but most of these cases had a lesional etiology. Methods We describe a stereo-EEG (SEEG) study in a patient with drug-resistant/non-lesional SHE. Patient was screened for known mutations associated with SHE. Results SEEG disclosed bilateral synchronous and independent activity prevailing on the right central-anterior cingulate cortex, without a clear spatially defined epileptogenic zone. Due to the lack of a clear epileptogenic zone, surgery was contraindicated. Years later a DEPDC5 mutation was identified. Conclusion We suggest that genetic analysis should be considered before performing SEEG study in a patient with drug resistant non-lesional SHE, in the presence of seizures in wakefulness and unclear anatomo-electroclinical correlation. If DEPDC5 mutations are identified, the presurgical evaluation should be tailored to look for MRI-negative focal cortical dysplasia and a wide epileptogenic network. The appropriate management and potential benefit of surgery for genetic non-lesional epilepsy have yet to be clarified.

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