Email this article EPILEPSY CAUSED BY PCDH19 GENE MUTATION: A REVIEW OF LITERATURE AND THE AUTHORS’ OBSERVATIONS
- Authors: Mukhin K.Y.1, Pylaeva O.A.1, Dolinina A.F.2, Moiseeva S.3, Verbitskaya Y.V.1, Petrukhin A.S.4, Kluger G.3, Holthausen H.3, Staudt M.3
-
Affiliations:
- Svt. Luka's Institute of Child Neurology and Epilepsy, Moscow
- Chelyabinsk Regional Children’s Clinical Hospital
- Neuropediatric Clinic and Clinic for Neurorehabilitation Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth
- Russian National Research Medical University, Moscow
- Issue: Vol 11, No 2 (2016)
- Pages: 26-32
- Section: AUTHENTIC ARTICLES
- Published: 24.08.2016
- URL: https://rjdn.abvpress.ru/jour/article/view/150
- DOI: https://doi.org/10.17650/2073-8803-2016-11-2-26-32
- ID: 150
Cite item
Full Text
Abstract
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.
About the authors
K. Yu. Mukhin
Svt. Luka's Institute of Child Neurology and Epilepsy, Moscow
Author for correspondence.
Email: center@epileptologist.ru
Konstantin Y. Muknin –6 Svetlaya St.,PuchkovoVillage, Pervomayskoe Settlement,Moscow, 143396
Russian FederationO. A. Pylaeva
Svt. Luka's Institute of Child Neurology and Epilepsy, Moscow
Email: fake@neicon.ru
6 Svetlaya St.,PuchkovoVillage, Pervomayskoe Settlement,Moscow, 143396 Russian Federation
A. F. Dolinina
Chelyabinsk Regional Children’s Clinical Hospital
Email: fake@neicon.ru
; 42A Blyukhera St., Chelyabinsk, 454076 Russian Federation
S. Moiseeva
Neuropediatric Clinic and Clinic for Neurorehabilitation Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth
Email: fake@neicon.ru
20 Krankenhausstrasse, D-83569, Vogtareuth Germany
Yu. V. Verbitskaya
Svt. Luka's Institute of Child Neurology and Epilepsy, Moscow
Email: fake@neicon.ru
6 Svetlaya St.,PuchkovoVillage, Pervomayskoe Settlement,Moscow, 143396 Russian Federation
A. S. Petrukhin
Russian National Research Medical University, Moscow
Email: fake@neicon.ru
Department of Neurology and Neurosurgery, Faculty of General Medicine, N.I.
1 Ostrovityanova St., Moscow, 117997
Russian FederationG. Kluger
Neuropediatric Clinic and Clinic for Neurorehabilitation Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth
Email: fake@neicon.ru
20 Krankenhausstrasse, D-83569, Vogtareuth Germany
H. Holthausen
Neuropediatric Clinic and Clinic for Neurorehabilitation Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth
Email: fake@neicon.ru
Контакты: 20 Krankenhausstrasse, D-83569, Vogtareuth Russian Federation
M. Staudt
Neuropediatric Clinic and Clinic for Neurorehabilitation Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth
Email: fake@neicon.ru
20 Krankenhausstrasse, D-83569, Vogtareuth Germany
References
Supplementary files
