Two Genes Linked to Severe Childhood Epilepsy

Researchers have just identified two genes that may be linked to childhood epilepsy.

After performing a technique known as exome sequencing to search for non-inherited gene mutations associated with neurological disorders, they identified 6 such gene mutations in 264 children. Two of the genes were new and four had previously been linked to epilepsy.

These particular forms of epilepsy are linked to infantile spasms and Lennox-Gastaut syndrome, known for three major characteristics including multiple seizures, a distinctive brain-wave pattern and mental deficiency that can range from slight to profound cognitive impairment.

The exome is estimated to encompass approximately 1 percent of the genome, yet contains approximately 85 percent of disease-causing mutations. For many genetic researchers that are trying to unravel disease-causing genes of over 6,800 rare diseases, exome sequencing can help to enable better identification methods of single-nucleotide variants and small insertions or deletions responsible for certain diseases.

"It appears that the time for using this approach to understand complex neurological disorders has arrived," study co-leader David Goldstein, director of the Human Genome Variation Center at Duke University Medical Center, said in an NIH news release, via U.S. News and World Report. "This moderately sized study identified an unusually large number of disease-causing mutations and provides a wealth of new information for the epilepsy research community to explore."

It's estimated that more than 3 million people in the United States alone are affected with epilepsy, and almost 500 new cases are diagnosed every day.

"Unlike some diseases, many of the genetic mutations associated with severe childhood epilepsies appear to be new mutations that are not inherited," Randall Stewart, a program director at the U.S. National Institute of Neurological Disorders and Stroke, said in the news release.

Researchers believe that up to 90 genes could have the epilepsy-causing mutations and that many of the mutations have associated with epilepsy risk have been linked to other neurodevelopmental diseases, including autism.

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More information regarding the study can be found in the journal Nature.