“A Father and Daughter Presentation of Autosomal Dominant Sleep‐Related Hypermotor Epilepsy Via a DEPDC5 Deletion in Exon 28”
- 1Virginia Tech Carilion School of Medicine Roanoke Virginia USA vt.edu
- 2Fralin Biomedical Research Institute Roanoke Virginia USA
- 3Division of Neurology Carilion Clinic Roanoke Virginia USA carilionclinic.org
Abstract
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.
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BibTeX
@article{barbaro2026father,
title = {{“A Father and Daughter Presentation of Autosomal Dominant Sleep‐Related Hypermotor Epilepsy Via a DEPDC5 Deletion in Exon 28”}},
author = {Julianna L. Barbaro and Elisabeth M. Benham and Ayushi Ambekar and Chetan S. Nayak},
journal = {Case Reports in Neurological Medicine},
year = {2026},
month = nov,
doi = {10.1155/crnm/5986538},
url = {https://doi.org/10.1155/crnm/5986538},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - “A Father and Daughter Presentation of Autosomal Dominant Sleep‐Related Hypermotor Epilepsy Via a DEPDC5 Deletion in Exon 28”
AU - Julianna L. Barbaro
AU - Elisabeth M. Benham
AU - Ayushi Ambekar
AU - Chetan S. Nayak
PY - 2026
DA - 2026/11/01
JO - Case Reports in Neurological Medicine
DO - 10.1155/crnm/5986538
UR - https://doi.org/10.1155/crnm/5986538
AB - 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.
SN - 2090-6668
SN - 2090-6676
ER -