In an article published in the April 2000 issue of Nature Genetics, U-M researchers describe their discovery of two different mutations in a gene called SCN1A found in DNA samples from two families with an inherited form of epilepsy. Epilepsy is a heterogeneous disease, meaning that multiple genes are involved and environmental factors are important, too. About 1 percent of the world's population has one of the many varieties of epilepsy. Escayg initially studied mutations in a related gene in a strain of laboratory mice with seizure disorders. Plus Type 2.
Most children stop having febrile seizures as they grow older.
Type 2, seizures continue, even in the absence of fever. As they become more frequent and severe, these seizures may lead to permanent neurological damage. SCN1A is the fifth epilepsy gene found so far. Ten percent to 15 percent of adults with epilepsy had recurrent seizures with fever as a child, so mutations in SCN1A may be associated with many varieties of epilepsy. It is a good candidate to test for other neurological disorders as well.