Genetics of Rolandic Epilepsy

King's College London

Status: Completed

Conditions: Epilepsy

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00282854

4727

R01NS047530 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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

Full description

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.

Enrollment: 1,000 patients

Sex: All

Ages: 3+ years old

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

Inclusion:

• 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

Trial design

1,000 participants in 2 patient groups

Group I: Cases

Description:

Children with rolandic epilepsy

Group II: Controls

Description:

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