Clinical and genetic characteristics of epilepsy caused by mutations in the PCDH19 gene (OMIM: 300088)

Dadali E.L.

FGBU Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Mishina I.A.

Federal State Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia

Borovikov A.O.

Federal State Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia

Sharkov A.A.

Veltischev Research and Clincal Institute of Pediatrics in Pirogov Russian National Research Medical University, Moscow, Russia

Kanivets I.V.

Research Center for Medical Genetics «Genomed», Moscow, Russia

Clinical and genetic characteristics of epilepsy caused by mutations in the PCDH19 gene (OMIM: 300088)

Authors:

Dadali E.L., Mishina I.A., Borovikov A.O., Sharkov A.A., Kanivets I.V.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2020;120(1): 55‑61

DOI: 10.17116/jnevro202012001155

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To cite this article:

Dadali EL, Mishina IA, Borovikov AO, Sharkov AA, Kanivets IV. Clinical and genetic characteristics of epilepsy caused by mutations in the PCDH19 gene (OMIM: 300088). S.S. Korsakov Journal of Neurology and Psychiatry. 2020;120(1):55‑61. (In Russ.)
https://doi.org/10.17116/jnevro202012001155

Подписка 2025-2 (S.S. Korsakov Journal of Neurology and Psychiatry)

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Epilepsy with PCDH19 mutation: polypharmacy as a consequence of the complexity and diversity of pathogenesis mechanisms. S.S. Korsakov Journal of Neurology and Psychiatry. 2024;(7):51-55

Objective. To analyze clinical and genetic characteristics of PCDH19-associated epilepsy in a sample of patients from the Russian population. Material and methods. The sample of patients with early epileptic encephalopathies included 16 people aged 10 month to 30 years. All patients underwent neurological examination according to standard methods, exome sequencing and EEG monitoring. Results. Most of the identified mutations led to a shift in the reading frame or the formation of a termination codon. Six of them were duplications, four were deletions of one nucleotide, and three were nonsense mutations. Consistent with earlier studies, the authors identified the polymorphism of clinical manifestations of seizures that did not depend on the type of mutation and its localization. Conclusion. Based on the study of the clinical and genetic characteristics of the patients, the authors conclude that the so-called «hot spots» are present in the PCDH19 gene, which are more common in the group of patients with mutations in this gene, and that the clinical picture of early infantile epileptic encephalopathy type 9 is variable.

Keywords:

early infantile epileptic encephalopathy

PCDH19

convulsions

developmental delay

Authors:

Dadali E.L.

FGBU Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Mishina I.A.

Federal State Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia

Borovikov A.O.

Federal State Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia

Sharkov A.A.

Veltischev Research and Clincal Institute of Pediatrics in Pirogov Russian National Research Medical University, Moscow, Russia

Kanivets I.V.

Research Center for Medical Genetics «Genomed», Moscow, Russia

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