Genetics of Rolandic Epilepsy

NCT ID: NCT00282854

Last Updated: 2023-06-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

1000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2005-01-31

Study Completion Date

2013-12-31

Brief Summary

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The purpose of this study is to find the genes that cause Rolandic epilepsy and its related traits.

Detailed Description

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Rolandic epilepsy (RE) is the most common type of childhood epilepsy-affecting more than 50,000 children in the United States-and has a complex genetic inheritance. The seizure prognosis is relatively benign, however, many children with RE also have problems with speech and language, reading, and motor coordination. Symptoms of the disorder overlap with more severe types of epilepsy.

The purpose of this study is to find the genes that influence RE and its related traits. Identifying genetic causes for the variants would improve diagnosis and allow for early intervention.

Researchers will enroll 1000 children with RE and 3000 controls for participation in the study. The scientists will request medical histories and (salivary) DNA samples from the participants. Participation can be completed by mail and telephone.

Results from this study should provide important information regarding diagnosis and prognosis of RE, may be useful in clinical management, and, eventually, may lead to a cure for this and other forms of epilepsy.

Conditions

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Epilepsy

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Group I: Cases

Children with rolandic epilepsy

No interventions assigned to this group

Group II: Controls

Individuals group matched to cases for ethnicity, sex and area of residence but lacking a primary brain disorder.

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* typical history of focal seizures
* EEG centrotemporal sharp waves
* age of onset 3-12 years
* no previous epilepsy type (febrile seizures OK)
* normal development
* normal neurological examination
* normal MRI/CT (if done)

Exclusion:

* only history of secondary generalized seizures
* atypical history/semiology
* history and EEG inconsistent
* abnormal EEG background
* very early (\<3yrs) or late (\>12yrs) onset
* global neurodevelopmental deficit
* deviant neurodevelopment
* structural imaging abnormality
Minimum Eligible Age

3 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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National Institute of Neurological Disorders and Stroke (NINDS)

NIH

Sponsor Role collaborator

King's College London

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Deb K. Pal, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Associate Research Scientist, Mailman School of Public Health, Columbia University Medical Center

Locations

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Mailman School of Public Health, Columbia University Medical Center, 722 West 168th St, 6th Floor

New York, New York, United States

Site Status

Countries

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United States

Related Links

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Other Identifiers

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R01NS047530

Identifier Type: NIH

Identifier Source: secondary_id

View Link

4727

Identifier Type: -

Identifier Source: org_study_id

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