“A Father and Daughter Presentation of Autosomal Dominant Sleep‐Related Hypermotor Epilepsy Via a DEPDC5 Deletion in Exon 28”

Sleep‐related hypermotor epilepsy (SHE) is a form of focal epilepsy that can be caused by a pathogenic autosomal‐dominant DEP domain containing Protein 5 (DEPDC5) variant. Given its variable clinical presentation and etiology, SHE can be challenging to diagnose and treat effectively. This case describes a father–daughter pair who experienced sleep‐related seizures with similar semiologies and were later diagnosed with autosomal dominant sleep‐related hypermotor epilepsy (ADSHE) after genetic test results revealed that they each had a DEPDC5 deletion in Exon 28. Currently, seizures are well controlled in the father with lacosamide plus brivaracetam and in the daughter with lacosamide alone. Due to the technically difficult nature inherent in diagnosing ADSHE, both father and daughter experienced diagnostic and treatment delays. This case report highlights the importance of early pattern recognition and genetic testing in patients with clinical features of ADSHE and expands upon the current understanding of clinical presentations of pathogenic DEPDC5 variants.