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Gene-STEPS: Shortening Time of Evaluation in Paediatric Epilepsy Services

Epilepsy

Overall, this observational cohort study aims too:

1. Implement rapid trio WGS for all children presenting to our health systems with epilepsy onset under 12 months of age.
2. Utilize electronic healthcare records and research databases to unite phenotypic and genomic data and to create a "virtual" registry across all institutions that will promote ongoing discovery.
3. Assess the impact of early genetic diagnosis on epilepsy, developmental, and health economic outcomes through formal longitudinal assessments of all children enrolled.

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Conditions de participation

  • Sexe:

    ALL

  • Âges admissibles:

    0 to 1

Critères de participation

Inclusion Criteria:

• Children under 12 months of age presenting with epilepsy.

Exclusion Criteria:

* Simple febrile seizures.
* Acute or remote symptomatic seizures due to sepsis, haemorrhage, cerebral infarction, hypoxic ischaemic encephalopathy or non-accidental injury.
* Structural malformations of the brain where the likely genetic cause is known such as tuberous sclerosis or lissencephaly.

Lieu de l'étude

The Hospital for Sick Children
The Hospital for Sick Children
Toronto, Ontario
Canada

Contactez l'équipe d'étude

Primary Contact

Gregory Costain, Dr

[email protected]
Étude parrainée par
Great Ormond Street Hospital for Children NHS Foundation Trust
Participants recherchés
Plus d'informations
ID de l'étude: NCT06082999