Genetic Test Diagnoses Infant With CLN10 After Unexplained Seizures
A newborn with microcephaly (unusually small head) and difficult-to-treat seizures was diagnosed with CLN10 disease, or congenital Batten disease, after a genetic analysis confirmed a mutation in the CTSD gene, a case study reports. Researchers stressed the importance of offering genetic testing and counseling to families at increased risk of…