Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press15010.17650/2073-8803-2016-11-2-26-32ORIGINAL REPORTSОРИГИНАЛЬНЫЕ СТАТЬИEPILEPSY CAUSED BY PCDH19 GENE MUTATION: A REVIEW OF LITERATURE AND THE AUTHORS’ OBSERVATIONSЭПИЛЕПСИЯ, ВЫЗВАННАЯ МУТАЦИЕЙ ГЕНА PCDH19: ОБЗОР ЛИТЕРАТУРЫ И СОБСТВЕННЫЕ НАБЛЮДЕНИЯMukhinK. Yu.МухинК. Ю.
Russian Federation

Konstantin Y. Muknin –6 Svetlaya St.,PuchkovoVillage, Pervomayskoe Settlement,Moscow, 143396 

Контакты: Константин Юрьевич Мухин -  143396, Москва, пос. Первомайское, дер. Пучково, ул. Светлая, 6

 

center@epileptologist.ruPylaevaO. A.ПылаеваО. А.
Russian Federation

6 Svetlaya St.,PuchkovoVillage, Pervomayskoe Settlement,Moscow, 143396

Контакты: 143396, Москва, пос. Первомайское, дер. Пучково, ул. Светлая, 6

DolininaA. F.ДолининаА. Ф.
Russian Federation

; 42A Blyukhera St., Chelyabinsk, 454076

Контакты: 454076, Челябинск, ул. Блюхера, 42А

MoiseevaS.МоисееваС.
Germany

20 Krankenhausstrasse, D-83569, Vogtareuth

Контакты: 20 Krankenhausstrasse, D-83569, Vogtareuth

VerbitskayaYu. V.ВербицкаяЮ. В.
Russian Federation

6 Svetlaya St.,PuchkovoVillage, Pervomayskoe Settlement,Moscow, 143396

Контакты: 143396, Москва, пос. Первомайское, дер. Пучково, ул. Светлая, 6

PetrukhinA. S.ПетрухинА. С.
Russian Federation

Department of Neurology and Neurosurgery, Faculty of General Medicine, N.I.

1 Ostrovityanova St., Moscow, 117997

Кафедра неврологии и нейрохирургии лечебного факультета

117997, Москва, ул. Островитянова, 1 

KlugerG.КлюгерГ.
Germany

20 Krankenhausstrasse, D-83569, Vogtareuth

Контакты: 20 Krankenhausstrasse, D-83569, Vogtareuth

HolthausenH.ХольтхаузенХ.
Russian Federation

Контакты: 20 Krankenhausstrasse, D-83569, Vogtareuth

StaudtM.ШтаудтМ.
Germany

20 Krankenhausstrasse, D-83569, Vogtareuth

Контакты: 20 Krankenhausstrasse, D-83569, Vogtareuth

Svt. Luka's Institute of Child Neurology and Epilepsy, MoscowИнститут детской неврологии и эпилепсии имени Святителя Луки, МоскваChelyabinsk Regional Children’s Clinical HospitalЧелябинская областная детская клиническая больница, ЧелябинскNeuropediatric Clinic and Clinic for Neurorehabilitation Epilepsy Center for Children and Adolescents, Schoen Klinik VogtareuthRussian National Research Medical University, MoscowРоссийский национальный исследовательский медицинский университет им. Н.И. Пирогова, Москва1504201611226322408201624082016Copyright ©; 2016, ABV-PressCopyright ©; 2016, АБВ-пресс2016ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/150

Mutation in the PCDH19 gene was first described by L.M. Dibbens et al. in 2008. Mutations in this gene are associated with epilepsy and mental retardation limited to females. The clinical manifestations that are observed in some patients with PCDH19 mutation and Dravet syndrome that is caused by mutation in the SCN1A gene include the onset of febrile and afebrile seizures in infancy, serial seizures during fever, and regression in development after the onset of seizures. Due to the fact that the two diseases have common clinical signs, it is best to test for PCDH19 mutation in patients with the clinical picture of Dravet syndrome and a negative test for SCN1A. In general, the number of scientific papers devoted to analysis and recommendations for the choice of therapy in patients with rare genetic pathology is small now. We analyzed the specific features of clinical signs and therapy in our two observed female patients aged 4 and 11 years with verified PCDH19 mutation. Both patients were noted to have severe epilepsy with febrile convulsions with the development of status epilepticus and to be unresponsive to antiepileptic therapy. The use of different antiepileptic drugs (valproate, oxcarbazepine, phenobarbital, topiramate, levetiracetam) at different combinations failed to control the course of epilepsy in the 4-year-old patient whereas the 11-year-old patient who took a combination of valproic acid and benzodiazepines achieved a positive effect.

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