A Novel, Possibly Pathogenic, COL4A1 Gene Variant (c.3698G>A) in a Family With Childhood Epilepsy and Leukoencephalopathy.

This case report explores the clinical presentation and genetic findings of a 44-year-old male with a history of pediatric epilepsy. The patient's daughter, recently diagnosed with autism, underwent genetic testing, revealing a variant of uncertain significance (VUS) in the type IV collagen alpha 1 (COL4A1) gene. The male patient reported a spectrum of neurological symptoms, including chronic migraines, exertional weakness, and sensory disturbances. Detailed neurological examination findings were within normal limits, but a brain MRI unveiled confluent deep white matter T2/fluid-attenuated inversion recovery (FLAIR) signal abnormalities with basal ganglia involvement. Genetic testing identified a novel COL4A1 gene variant, c.3698G>A (p.Gly1233Glu), in the patient, which was also carried by his daughter. The nature and clinical implications of this VUS in the context of the family's clinical history are discussed in this case report, emphasizing the potential significance of this genetic variant in understanding the etiology of the patient's neurologic symptoms. Further research and correlation with clinical findings are needed to elucidate whether this is a pathogenic variant.