Contribution of Genetics, Non-invasive Methods and Neuropsychology in Focal Cryptogenic Epilepsies

Summary

Patients with cryptogenic focal epilepsy (unknown cause) represent about the 30% of the entire population of epilepsy patients. Among them, about 30% are drug-resistant. The implementation of of high-field magnetic resonance imaging resolution, the new Next Generation Sequencing techniques,and innovative non-invasive neurophysiological methods (Electroencephalogram-Functional magnetic resonance imaging and High Density-Electroencephalogram) could provide a superior identification of the epileptogenic zone and therefore an increased access to epilepsy surgery.

Despite this, patients with cryptogenic epilepsy require more frequently invasive methods of presurgical study and they have more unfavorable results than patients with lesions detectable on magnetic resonance imaging. Within this context, the study is aimed at integrating the neurophysiological, radiological, neuropsychological and genetic aspects of patients with focal cryptogenic epilepsy in order to evaluate their surgical eligibility,sparing invasive methods.

Conditions

• Epilepsies, Partial
• Epilepsy Intractable

Interventions

DIAGNOSTIC_TEST

Standard of care

Enrollment of patients afferent to our Center with cryptogenic drug-resistant epilepsy with onset in pediatric age, subject to informed consent; * acquisition and updating of Electroencephalogram polygraphic data of wakefulness and sleep and neuroradiological data (previous negative brain magnetic resonance imaging); * execution of a complete neuropsychological assessment for the classification of cognitive aspects and evaluation of executive functions; * execution of genetic tests through Next generation sequencing epilepsies panel or exome sequencing

DIAGNOSTIC_TEST

Functional magnetic resonance imaging-Electroencephalogram combined analysis

A functional brain magnetic resonance imaging is executed analysing blood oxygenation level dependent signal. During the functional recording, a contemporary electroencephalogram is registered in order to analyse the space-time relationship between the epileptic discharges and the bold abnormalities.

DIAGNOSTIC_TEST

High density- electroencephalogram or 7 Tesla magnetic resonance imaging

In the event that neither the cause nor the epileptogenic area has been identified, we will evaluate the execution of further tests, such as: * execution of High Density-electroencephalogram recording at "IRCCS Medea di Conegliano" (TV, Italy) (approximately 3 patients / year) for a further electrophysiological definition; * 7 Tesla brain magnetic resonance imaging performed at "IRCCS Stella Maris in Calambrone" (PI, italy) (approximately 3 patients / year expected), to obtain greater spatial resolution and better neuroradiological definition.

Sponsors & Collaborators

• IRCCS Eugenio Medea

  lead OTHER

Principal Investigators

• Stefania Zambrano, MD · Scientific Institute IRCCS Eugenio Medea

Study Design

Allocation

NA

Purpose

DIAGNOSTIC

Masking

NONE

Model

SEQUENTIAL

Eligibility

Min Age

1 Month

Max Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2021-07-15

Primary Completion

2024-12-31

Completion

2024-12-31

Countries

• Italy

Study Locations