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СЛОЖНОСТИ ДИАГНОСТИКИ РАННЕЙ ИНФАНТИЛЬНОЙ ЭПИЛЕПТИЧЕСКОЙ ЭНЦЕФАЛОПАТИИ 9-ГО ТИПА

https://doi.org/10.30629/2658-7947-2019-24-3-24-30

Полный текст:

Аннотация

Об авторах

А. Г. Малов
ФГБОУ ВО Пермский государственный медицинский университет им. академика Е.А. Вагнера МЗ РФ
Россия
доктор медицинских наук, доцент кафедры неврологии им. В.П. Первушина


М. И. Вшивков
ГБУЗ ПК Детская клиническая больница им. П.И. Пичугина
Россия
врач-невролог, заведующий отделением неврологии


М. А. Мамунц
ФГБОУ ВО Пермский государственный медицинский университет им. академика Е.А. Вагнера МЗ РФ
Россия
канд. мед. наук, доцент кафедры педиатрии


Список литературы

1. Online Mendelian Inheritance in Man. http://www.ncbi.nlm.nih. gov/omim.

2. Depienne C., Bouteiller D., Keren B. et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet. 2009; 5(2):e1000381. https://doi.org/10.1371/journal. pgen.1000381.

3. Dibbens L.M., Tarpey P.S., Hynes K. et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat. Genet. 2008; 40(6):776-81. https:// doi.org/10.1038/ng.149.

4. Juberg R.C., Hellman C.D. A new familial form of convulsive disorder and mental retardation limited to females. J. Pediatr. 1971;79(5):726-32.

5. Niazi R., Fanning E.A., Depienne C. et al. A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern. Hum. Mutat. 2019; 40(3): 243-57. https://doi.org/10.1002/humu.23701.

6. Gerosa L., Francolini M., Bassani S. et al. The role of protocadherin 19 (PCDH19) in neurodevelopment and in the pathophysiology of early infantile epileptic encephalopathy-9 (EIEE9). Developl. Neurobiol. 2018;79(1): 75-84. https://doi. org/10.1002/dneu.22654

7. Pederick D.T., Richards K.L., Piltz S.G. et al. Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 epilepsy. Neuron. 2018;97(1):59-66. https://doi.org/10.1016/j. neuron.2017.12.005

8. Bassani S., Cwetsch A. W, Gerosa L. et al. The female epilepsy protein PCDH19 is a new GABAAR-binding partner that regulates GABAergic transmission as well as migration and morphological maturation of hippocampal neurons. Hum. Mol. Genet. 2018;27 (6):1027–38. https://doi.org/10.1093/hmg/ ddy019

9. Homan C.C., Pederson S., To T.H. et al. PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy. Neurobiol. Dis. 2018;116(8):106–19. https://doi.org/10.1016/j.nbd.2018.05.004.

10. Мухин К.Ю., Пылаева О.А., Долинина А.Ф. и др. Эпилепсия, вызванная мутацией гена РСDH19: обзор литературы и собственные наблюдения. Русский журнал детской неврологии. 2016;11(2):26-32. https://doi.org/10.17650/2073-8803-2016-11-2-26-32.

11. Scheffer I.E., Turner S.J., Dibbens L.M. et al. Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain. 2008;131(4):918-27. https://doi.org/10.1093/ brain/awm338.

12. Harssel J.J.T., Weckhuysen S., Kempen M. J. A. et al. Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders. Neurogenetics. 2013;14(1):23-34. https:// doi.org/10.1007/s10048-013-0353-1.

13. Lotte J., Bast T., Borusiak P. et al. Effectiveness of antiepileptic therapy in patients with PCDH19 mutations. Seizure. 2016;35:106-10. https://doi.org/10.1016/j.seizure.2016.01.006.

14. Kolc K.L., Sadleir L.G., Scheffer I.E. et al. A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. Mol. Psychiatry. 2019;24(2):241-51. https:// doi.org/10.1038/s41380-018-0066-9.

15. Lyons S, Marnane M, Reavey E. et al. PCDH19-related epilepsy: a rare but recognisable clinical syndrome in females. Pract. Neurol. 2017;17:314-7. https://doi.org/10.1136/ practneurol-2016-001521

16. Smith L., Singhal N., El Achkar C.M. et al. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum. Epilepsia. 2018; 59(3): 679-89. https://doi. org/10.1111/epi.14003.

17. Kurian, M., Korff, C.M., Ranza, E. et al. Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report. Dev. Med. Child. Neurol. 2018;60(1):100-5. https://doi.org/10.1111/dmcn.13595.

18. Higurashi N., Takahashi Y., Kashimada A. et al. Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy. Seizure. 2015;27:1-5. https://doi.org/10.1016/j. seizure.2015.02.006.


Рецензия

Для цитирования:


Малов А.Г., Вшивков М.И., Мамунц М.А. СЛОЖНОСТИ ДИАГНОСТИКИ РАННЕЙ ИНФАНТИЛЬНОЙ ЭПИЛЕПТИЧЕСКОЙ ЭНЦЕФАЛОПАТИИ 9-ГО ТИПА. Российский неврологический журнал. 2019;(3):24-30. https://doi.org/10.30629/2658-7947-2019-24-3-24-30

For citation:


Malov A.G., Vshivkov M.I., Mamunts M.A. DIFFICULTIES OF EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY-9 DIAGNOSTIC. Russian neurological journal. 2019;(3):24-30. (In Russ.) https://doi.org/10.30629/2658-7947-2019-24-3-24-30

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