DEPDC5-related familial focal epilepsy
T. V. Kozhanova,
S. S. Zhilina,
L. M. Sushko,
E. G. Lukyanova,
K. V. Osipova,
A. I. Krapivkin,
N. N. Zavadenko https://doi.org/10.17749/2077-8333/epi.par.con.2023.159
Abstract
Focal epilepsy is the most common type of epilepsy accounting for 60–70% of all cases of this pathology. We present two familial cases of focal epilepsy associated with a nucleotide sequence variant in DEPDC5 gene. Clinical and ancestry examination was performed by using instrumental (magnetic resonance imaging, video-electroencephalography) and genetic testing methods. The nucleotide sequence variants in DEPDC5 gene were found in two probands and paired fathers with epilepsy. Focal cortical dysplasia was detected only in the father of Proband 1 as well as Proband 2 with resistant epilepsy and severe cognitive deficit. Hence, such clinical cases confirm that pathogenic variants in DEPDC5 gene are related with familial focal epilepsy, which clinical manifestation may depend on the type of identified mutation. The study of genotype-phenotype correlations is necessary to apply proper therapy. Before surgical treatment of epilepsy, the genetic testing by whole exome or whole genome sequencing should be performed.
About the Authors
T. V. Kozhanova
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Tatyana V. Kozhanova – MD, PhD, Leading Researcher, Laboratory Geneticist; Associate Professor, Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics
38 Aviators Str., Moscow, 119620;
1 Ostrovityanov Str., Moscow, 117997
S. S. Zhilina
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Svetlana S. Zhilina – MD, PhD, Leading Researcher, Geneticist; Associate Professor, Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics
38 Aviators Str., Moscow, 119620;
1 Ostrovityanov Str., Moscow, 117997
L. M. Sushko
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children
Russian Federation
Russian Federation
Lilia M. Sushko – Neurologist
38 Aviators Str., Moscow, 119620
E. G. Lukyanova
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children
Russian Federation
Russian Federation
Ekaterina G. Lukyanova – Neurologist
38 Aviators Str., Moscow, 119620
K. V. Osipova
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children
Russian Federation
Russian Federation
Karina V. Osipova – MD, PhD, Head of Neuropsychiatric Department
38 Aviators Str., Moscow, 119620
A. I. Krapivkin
Voyno-Yasenetsky Scientific and Practical Center of Spicialized Medical Care for Children
Russian Federation
Russian Federation
Alexey I. Krapivkin – Dr. Med. Sc., Director
38 Aviators Str., Moscow, 119620
N. N. Zavadenko
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Nikolay N. Zavadenko – Dr. Med. Sc., Professor, Chief of Chair of Neurology, Neurosurgery and Medical Genetics, Faculty of Pediatrics
1 Ostrovityanov Str., Moscow, 117997
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Review
For citations:
Kozhanova T.V., Zhilina S.S., Sushko L.M., Lukyanova E.G., Osipova K.V., Krapivkin A.I., Zavadenko N.N. DEPDC5-related familial focal epilepsy. Epilepsy and paroxysmal conditions. 2023;15(4):339-347. (In Russ.) https://doi.org/10.17749/2077-8333/epi.par.con.2023.159
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