Focused epilepsy gene panel program boosts diagnostic yield

Use of a focused epilepsy gene panel program has led to increases in diagnostic yield and earlier diagnosis of CLN2 disease, researchers have reported.

At ICNA/CNS 2020, they presented data from a study of the effect of a gene panel program on the diagnosis of CLN2 disease – a form of neuronal ceroid lipofuscinosis that commonly presents non-specifically with seizures and a history of language development delay at 2-4 years.

The Behind the Seizure (BTS) program is a no-cost 187-gene panel, sponsored by Biomarin Pharmaceutical. Data on 682 tests completed between December 2016 and February 2019 were analyzed.

Patients eligible for inclusion in the study had an age at test order of 24-60 months, with unprovoked seizure onset at age 24 months or older.

The researchers, from centers in Atlanta, Chicago, San Francisco, and Rochester, USA, reported that a molecular diagnosis was made in 46 cases. The most common three diagnoses involved variants in: