Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant.

Epilepsy and white matter abnormality have been reported in DYRK1A-related intellectual disability syndrome; however, the clinical course has yet to be elucidated. Here, we report the clinical course of an 18-year-old male with a novel heterozygous DYRK1A variant ({"type":"entrez-nucleotide","attrs":{"text":"NM_001396.4","term_id":"1113820482","term_text":"NM_001396.4"}}NM_001396.4: c.957C>G, p.Tyr319*); based on previous reports, epilepsy with this syndrome tends to be well controlled. Follow-up MRIs of the patient’s lesion revealed slightly reduced signal intensity compared to the first image.