The aim of this case series is to shed light on Autosomal Dominant Sleep-related Hypermotor Epilepsy (ADSHE) clinical presentation, diagnosis, genetic testing, and treatment.

Sleep-related Hypermotor Epilepsy (SHE) is a focal epilepsy that presents with stereotypical episodes of hypermotor activity lasting less than two minutes and occurs abruptly during stage II non-rapid eye movement sleep. While the etiology of SHE is often unknown, as the pathogenesis is complex and not fully understood, the most common causes include focal cortical dysplasia, traumatic brain injury, and genetic mutations such as CHRNA4, CHRNB2, DEPDC5, KCNT1. Given its variable clinical presentation and etiology, SHE can be challenging to both diagnose and treat effectively.

This case describes a father-daughter pair who both experienced nocturnal seizures with similar semiologies and were later diagnosed with ADSHE after genetic test results revealed they each had a DEPDC5 deletion in exon 28.

The daughter had two-to-three-minute seizures that were characterized by gurgling noises, arousal from sleep, blank stare with eyes open, unresponsiveness to verbal stimuli, intermittent oral automatisms, and tongue biting. The seizures were not associated with any extremity jerking or motor movements.

The father’s seizures lasted one-to-two-minutes and were characterized on video electroencephalography (EEG) as arousal from sleep, sitting up in bed, and making grunting/guttural noises with and without loss of awareness.

Currently, seizures are well-controlled in the daughter and father with lacosamide and lacosamide plus brivaracetam, respectively. Due to the difficulty in diagnosing ADSHE, both father and daughter experienced delayed diagnosis of this genetic epilepsy subtype, which resulted in delayed appropriate treatment.

This case report highlights the importance of clinical presentation and early pattern recognition of seizure type as well as the role of genetic testing and video EEG monitoring in patients with clinical features of ADSHE.