Genomic sequencing for Refractory EPilepsy (GREP)

Not Applicable

Recruiting

• Conditions: Epilepsy; Neurological - Epilepsy

• Registration Number: ACTRN12618001444279
• Lead Sponsor: Monash University

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2018-08-28
• Last Update Posted: 20 June 2022

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 180

Inclusion Criteria

1.Age at recruitment 1 month to 65 years.
2.Age of onset of epilepsy less or equal to 18 years.
3.Medically refractory epilepsy (persistent seizures despite trials of 2 or more antiepileptic drugs)
4.Suspected but unknown genetic cause of epilepsy demonstrated by (any of):
•At least one first and/or second degree relatives with epilepsy or febrile seizures.
•MRI evidence of malformation of cortical development (e.g. focal cortical dysplasia, polymicrogyria).
•Suspected genetic epilepsy syndrome.

Exclusion Criteria

1.Patients with a recognised idiopathic generalised epilepsy (also called genetic generalised epilepsy) syndrome, namely childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, or generalised tonic-clonic seizures alone.
2.Diagnosis of a known single gene syndrome (e.g. Dravet syndrome, tuberous sclerosis complex, lissencephaly, double cortex, familial cavernomas).
3.Epilepsy related to an acquired brain insult or lesion, e.g. trauma, stroke, tumour, encephalitis (bacterial/viral/autoimmune). Hippocampal sclerosis is not excluded.
4.Patients who had previous next generation sequencing (single gene acceptable).
5.Patients with only psychogenic non-epileptic seizures.
6.Patients requiring early/urgent genetic testing with results available in less than 9 months.
7.Patients who had drug-resistant epilepsy but have become seizure-free after resective epilepsy surgery.

Study & Design

• Study Type: Interventional
• Study Design: Not specified