R.G. GAMIROVA^1,2, A.I. SADRIEVA¹, R.R. GAMIROVA², V.F. PRUSAKOV¹

¹Kazan State Medical Academy — Branch Campus of the FSBEI FPE RMACPE MOH Russia, 36 Butlerov Str., Kazan, Russian Federation, 420012

²Kazan (Volga Region) Federal University, 18 Kremlevskaya Str., Kazan, Russian Federation, 420008

 Gamirova R.G. ― PhD (medicine), Associate Professor of the Department of Pediatric Neurology, tel. (843) 273-49-09, e-mail: [email protected], ORCID ID: 0000-0002-8582-592X

Sadrieva A.I. ― resident of the Department of Pediatric Neurology, e-mail: [email protected], ORCID ID: 0000-0002-1078-1491

Gamirova R.R. ― the 6^th year student of Institute of Fundamental Biology and Medicine, e-mail: [email protected], ORCID ID: 0000-0003-0441-9418

Prusakov V.F. ― D. Sc. (medicine), Professor, Head of the Department of Pediatric Neurology, tel. (843) 273-49-09, e-mail: [email protected], ORCID ID: 0000-0002-2866-4031

 Objective ― to describe a case of a familial variant of Watanabe ― Vigevano syndrome.

Material and methods. The patient’s history of disease, pedigree, results of clinical and paraclinical examinations, including video-EEG-monitoring, molecular genetic analysis of the DNA, were studied. Patient was observed by an epileptologist from 2010 to 2018 at Kazan City Hospital №8. Using the hereditary epilepsy diagnostic panel, a heterozygous mutation in exon 2 of the PRRT2 gene (chr16: 29825015G> GC) was identified.

Results. The authors presented a clinical case of an eight-year-old girl with benign familial infantile seizures. A sibling (younger brother of the patient) had similar symptoms. Another 5 people in this family suffered from the same focal seizures occurring between 2 and 24 months of life, which were stopped in childhood.

Conclusion. The example of a familial case of Watanabe ― Vigevano syndrome demonstrates the clinical features, neurological status, course of epilepsy, electroencephalographic picture of patients and confirms the benign nature of the family variant of this disease.

Key words: epilepsy in children, benign familial infantile seizures, Watanabe ― Vigevano syndrome, clinical case.

(For citation: Gamirova R.G., Sadrieva A.I., Gamirova R.R., Prusakov V.F. The case of the familial form of Watanabe ― Vigevano syndrome. Practical Medicine. 2018)

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