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 language | English |
|---|---|
| Pages (from-to) | 51-54 |
| Number of pages | 4 |
| Journal | Seizure |
| Volume | 53 |
| DOIs | |
| Publication status | Published - Dec 1 2017 |
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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 journal › Article
}
TY - JOUR
T1 - A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation
AU - Ferri, Lorenzo
AU - Bisulli, Francesca
AU - Mai, Roberto
AU - Licchetta, Laura
AU - Leta, Chiara
AU - Nobili, Lino
AU - Mostacci, Barbara
AU - Pippucci, Tommaso
AU - Tinuper, Paolo
N1 - Ricercatori distaccati presso IRCCS a seguito Convenzione esclusiva con Università di Bologna (Bisulli Francesca, Licchetta Laura, Tinuper Paolo)
PY - 2017/12/1
Y1 - 2017/12/1
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.
AB - 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.
KW - DEPDC5
KW - Focal cortical dysplasia
KW - Genetic epilepsy surgery
KW - SEEG
KW - SHE
UR - http://www.scopus.com/inward/record.url?scp=85033393020&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85033393020&partnerID=8YFLogxK
U2 - 10.1016/j.seizure.2017.10.022
DO - 10.1016/j.seizure.2017.10.022
M3 - Article
C2 - 29125946
AN - SCOPUS:85033393020
VL - 53
SP - 51
EP - 54
JO - Seizure : the journal of the British Epilepsy Association
JF - Seizure : the journal of the British Epilepsy Association
SN - 1059-1311
ER -