A clinical case of epilepsy in a female patient with double mutations in the SCN2A and PCDH19 genes
https://doi.org/10.14412/2074-2711-2017-1S-74-77
Abstract
The paper describes a 6-year-old female patient with epilepsy caused by mutations in the SCN2A and PCDH19 genes, which clinically appears as epileptic seizures, drug-resistant epilepsy, secondary microcephaly, mental retardation, and autism. It reviews the literature regarding both mutations. World literature lacks publications on a combination of two SCN2A and PCDH19 mutations in one female patient with epileptic encephalopathies.
About the Authors
M. B. Mironov
Institute of Advanced Training, Federal Biomedical Agency;
Research and Practical Center of Pediatric Psychoneurology, Moscow Healthcare Department
Russian Federation
Russian Federation
Department of Clinical Physiology and Functional Diagnosis, 91, Volokolamskoe Shosse, Moscow 123371;
74, Michurinsky Prospect, Moscow 119602
M. Yu. Bobylova
Saint Luke Institute of Pediatric and Adult Neurology and Epilepsy
Russian Federation
9, Academician Anokhin St., Moscow 119579
Russian Federation
9, Academician Anokhin St., Moscow 119579
S. G. Burd
Research and Practical Center of Pediatric Psychoneurology, Moscow Healthcare Department;
N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
74, Michurinsky Prospect, Moscow 119602;
Department of Neurology, Neurosurgery, and Medical Genetics, Faculty of
General Medicine, 1, Ostrovityanov St., Moscow 117997
T. M. Krasilshchikova
N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
Department of Neurology, Neurosurgery, and Medical Genetics, Faculty of Pediatrics,
1, Ostrovityanov St., Moscow 117997
M. M. Gunchenko
Research and Practical Center of Pediatric Psychoneurology, Moscow Healthcare Department
Russian Federation
74, Michurinsky Prospect, Moscow 119602
Russian Federation
74, Michurinsky Prospect, Moscow 119602
M. N. Sarzhina
Research and Practical Center of Pediatric Psychoneurology, Moscow Healthcare Department
Russian Federation
74, Michurinsky Prospect, Moscow 119602
Russian Federation
74, Michurinsky Prospect, Moscow 119602
T. T. Batysheva
Research and Practical Center of Pediatric Psychoneurology, Moscow Healthcare Department
Russian Federation
74, Michurinsky Prospect, Moscow 119602
Russian Federation
74, Michurinsky Prospect, Moscow 119602
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Review
For citations:
Mironov MB, Bobylova MY, Burd SG, Krasilshchikova TM, Gunchenko MM, Sarzhina MN, Batysheva TT. A clinical case of epilepsy in a female patient with double mutations in the SCN2A and PCDH19 genes. Nevrologiya, neiropsikhiatriya, psikhosomatika = Neurology, Neuropsychiatry, Psychosomatics. 2017;9(1S):74-77. (In Russ.) https://doi.org/10.14412/2074-2711-2017-1S-74-77
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