Genetics of Rolandic Epilepsy

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.

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