Abstract
An analysis of electronic medical records data, carried out by researchers at the Children's Hospital of Philadelphia, links symptoms of childhood epilepsy at certain ages with variation in specific genes.
The researchers hope this information will help clinicians give families more information about how their child's epilepsy might progress over time based on their genetic profile.
The team found significant links between having ‘status epilepticus' seizures—seizures of 5 minutes or more, or two or more linked seizures—and variants in the gene SCN1A at 1 year of age. They also found links between severe intellectual disability and variants in the gene PURA at 9-10 years, although this was only in a small number of individuals, and between variants in the gene STXBP1 and infantile and epileptic spasms at the age of 6 months.
“Our study is the first example in childhood neurological orders to systematically connect genomic information with the medical records,” says Ingo Helbig, M.D., a physician at the Children's Hospital and researcher at the University of Pennsylvania, who led the study.
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