Preview

Neurology, Neuropsychiatry, Psychosomatics

Advanced search

A clinical case of epilepsy in a female patient with double mutations in the SCN2A and PCDH19 genes

https://doi.org/10.14412/2074-2711-2017-1S-74-77

Full Text:

Abstract

The paper describes a 6-year-old female patient with epilepsy caused by mutations in the SCN2A and PCDH19 genes, which clinically appears as epileptic seizures, drug-resistant epilepsy, secondary microcephaly, mental retardation, and autism. It reviews the literature regarding both mutations. World literature lacks publications on a combination of two SCN2A and PCDH19 mutations in one female patient with epileptic encephalopathies.

About the Authors

M. B. Mironov
Institute of Advanced Training, Federal Biomedical Agency; Research and Practical Center of Pediatric Psychoneurology, Moscow Healthcare Department
Russian Federation

Department of Clinical Physiology and Functional Diagnosis, 91, Volokolamskoe Shosse, Moscow 123371;

74, Michurinsky Prospect, Moscow 119602



M. Yu. Bobylova
Saint Luke Institute of Pediatric and Adult Neurology and Epilepsy
Russian Federation
9, Academician Anokhin St., Moscow 119579


S. G. Burd
Research and Practical Center of Pediatric Psychoneurology, Moscow Healthcare Department; N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation

74, Michurinsky Prospect, Moscow 119602;

Department of Neurology, Neurosurgery, and Medical Genetics, Faculty of
General Medicine, 1, Ostrovityanov St., Moscow 117997



T. M. Krasilshchikova
N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation

Department of Neurology, Neurosurgery, and Medical Genetics, Faculty of Pediatrics, 

1, Ostrovityanov St., Moscow 117997



M. M. Gunchenko
Research and Practical Center of Pediatric Psychoneurology, Moscow Healthcare Department
Russian Federation
74, Michurinsky Prospect, Moscow 119602


M. N. Sarzhina
Research and Practical Center of Pediatric Psychoneurology, Moscow Healthcare Department
Russian Federation
74, Michurinsky Prospect, Moscow 119602


T. T. Batysheva
Research and Practical Center of Pediatric Psychoneurology, Moscow Healthcare Department
Russian Federation
74, Michurinsky Prospect, Moscow 119602


References

1. Striano P, de Jonghe P, Zara F. Genetic epileptic encephalopathies: is all written into the DNA? Epilepsia. 2013 Nov;54 Suppl 8:22-6. doi: 10.1111/epi.12419

2. Mastrangelo M, Leuzzi V. Genes of earlyonset epileptic encephalopathies: from genotype to phenotype. Pediatr Neurol. 2012 Jan;46(1): 24-31. doi: 10.1016/j.pediatrneurol.2011.11.003

3. Berkovic SF. Genetics of epilepsy in clinical practice. Epilepsy Curr. 2015 Jul-Aug;15(4):192-6. doi: 10.5698/1535-7511-15.4.192

4. McTague A, Howell KB, Cross JH, et al. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol. 2016 Mar;15(3):304-16. doi: 10.1016/S1474-4422(15)00250-1. Epub 2015 Nov 17.

5. Patel J, Mercimek-Mahmutoglu S. Epileptic encephalopathy in childhood: A stepwise approach for identification of underlying genetic causes. Indian J Pediatr. 2016 Oct;83(10):1164-74. doi: 10.1007/s12098-015-1979-9. Review. PMID: 2682154.

6. Berkovic SF, Heron SE, Giordano L, et al. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol. 2004;55:550-7. doi: 10.1002/ana.20029

7. Ogiwara I, Ito K, Sawaishi Y, et al. De novo mutations of voltage-gated sodium channel alpha-II gene SCN2A in intractable epilepsies. Neurology. 2009;73:1046-53. doi: 10.1212/WNL.0b013e3181b9cebc

8. Kamiya K, Kaneda M, Sugawara T, et al. A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline. J Neurosci. 2004;24:2690-8. doi: 10.1523/JNEUROSCI.3089-03.2004

9. Liao Y, Deprez L, Maljevic S, et al. Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain. 2010;133:1403-14. doi: 10.1093/brain/awq057

10. Sanders SJ, Murtha MT, Gupta AR, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012;485:237-41. doi: 10.1038/nature10945

11. Tavassoli T, Kolevzon A, Wang AT, et al. De novo SCN2A splice site mutation in a boy with autism spectrum disorder. BMC Med Genet. 2014;15:35. doi: 10.1186/1471-2350-15-35

12. Bergren SK, Chen S, Galecki A, Kearney JA. Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel SCN2A. Mammalian Genome. 2005;16(9):683-90. doi: 10.1007/s00335-005-0049-4

13. Dibbens LM, Tarpey PS, Hynes K, et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet. 2008;40:776-81. doi: 10.1038/ng.149

14. Duszyc K, Terczynska I, HoffmanZacharska D. Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance. J Appl Genet. 2015;56(1):49-56. doi: 10.1007/s13353-014-0243-8

15. 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 Feb;5(2):e1000381. doi: 10.1371/journal.pgen.1000381

16. Gagliardi M, Annesi G, Sesta M, et al. PCDH19 mutations in female patients from Southern Italy. Seizure. 2015 Jan;24:118-20. doi: 10.1016/j.seizure.2014.08.010

17. Cappelletti S, Specchio N, Moavero R, et al. Cognitive development in females with PCDH19 gene-related epilepsy. Epilepsy Behavior. 2015;42:36-40. doi: 10.1016/j.yebeh.2014.10.019


For citation:


Mironov M.B., Bobylova M.Y., Burd S.G., Krasilshchikova T.M., Gunchenko M.M., Sarzhina M.N., Batysheva T.T. A clinical case of epilepsy in a female patient with double mutations in the SCN2A and PCDH19 genes. Neurology, Neuropsychiatry, Psychosomatics. 2017;9(1S):74-77. (In Russ.) https://doi.org/10.14412/2074-2711-2017-1S-74-77

Views: 149


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2074-2711 (Print)
ISSN 2310-1342 (Online)