Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy
https://doi.org/10.17650/2222-8721-2017-7-3-36-42
Abstract
One of the most common neurological symptoms in children of the first year of life is seizures, the etiology of which is manifold. Investigations in recent years have shown that a significant number of infantile seizures are hereditary in nature. The review identifies the main groups of hereditary diseases and syndromes, in whose symptom complex convulsions are observed, outlines the main features of their clinical manifestations and methods of diagnosis. Correct and timely diagnosis of hereditary pathology helps not only to determine the nature of the course of the disease and the effectiveness of the use of various antiepileptic drugs, but also to significantly improve the effectiveness of genetic counseling of burdened families and to prevent the occurrence of recurrent cases оf disease.
About the Authors
N. A. Semenova
Research Center of Medical Genetics
Russian Federation
Russian Federation
E. L. Dadali
Research Center of Medical Genetics
Russian Federation
Russian Federation
A. A. Sharkov
Yu.E. Veltischev Research and Clinical Institute for Pediatrics, N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
I. A. Akimova
Research Center of Medical Genetics
Russian Federation
Russian Federation
References
1. Мухин К. Ю., Петрухин А. С., Миронов М. Б. Эпилептические синдромы. Диагностика и терапия. Справочное руководство для врачей. М., 2008. 224 с. [Mukhin K. Yu., Petrukhin A. S., Mironov M. B. Epileptic syndromes. Diagnosis and therapy. Reference guide for doctors. Moscow, 2008. 224 p. (In Russ.)].
2. Zhang D., Liu X., Deng X. Genetic basis of pediatric epilepsy syndromes (review). Exp Ther Med 2017;13(5):2129–33. DOI: 110.3892/etm.2017.4267. PMID: 28565819.
3. Eltze C. M., Chong W. K., Cox T. et al. A population-based study of newly diagnosed epilepsy in infants. Epilepsia 2013;54(3):437–45. DOI: 110.1111/epi.12046. PMID: 23252366.
4. Pal D. K., Pong A. W., Chung W. K. Genetic evaluation and counseling for epilepsy. Nate Rev Neurol 2010;6(8):445–53. DOI: 110.1038/nrneurol.2010.92. PMID: 20647993.
5. Михайлова С. В., Захарова Е. Ю., Петрухин А. С. Нейрометаболические заболевания у детей и подростков: диагностика и подходы к лечению.
6. М.: Литература, 2012. 352 с. [Mikhaylova S. V., Zakharova E. Yu., Petrukhin A. S. Neurometabolic diseases in children and adolescents: Diagnosis and treatment approaches. Moscow: Literatura, 2012. 352 p. (In Russ.)].
7. Цшоке Й., Хоффман Г. Vademecum metabolicum. Диагностика и лечение наследственных болезней обмена веществ. М.: PRINTALLOGGI, 2013. 176 с. [Tsshoke Y., Hoffman G. Vademecum metabolicum. Diagnosis and treatment of hereditary metabolic diseases. Moscow: PRINTALLOGGI, 2013. 176 p. (In Russ.)].
8. Therrell B. L. Jr, Lloyd-Puryear M. A., Camp K. M., Mann M. Y. Inborn errors of metabolism identified via newborn screening: ten-year incidence data and costs of nutritional interventions for research agenda planning. Mol Genet Metab 2014;113(1–2):14–26. DOI: 110.1016/j.ymgme.2014.07.009. PMID: 25085281.
9. Koopman W. J., Willems P. H., Smeitink J. A. Monogenic mitochondrial disorders. N Engl J Med 2012;366(12): 1132–41. DOI: 110.1056/NEJMra1012478. PMID: 22435372.
10. Wedatilake Y., Brown R. M., McFarland R. et al. SURF1 deficiency: a multi-centre natural history study. Orphanet J Rare Dis 2013;8:96. DOI: 110.1186/1750-1172-8-96. PMID: 23829769.
11. Shapira S. K., Ledley F. D., Rosenblatt D. S., Levy H. L. Ketoacidotic crisis as
12. a presentation of mild (“benign”) methylmalonic acidemia. J Pediatr 1991;119(1 Pt 1):80–4. DOI: 110.1016/S0022-3476(05)81045-5. PMID: 2066863.
13. Lu F. L., Wang P. J., Hwu W. L. et al. Neonatal type of non-ketotic hyperglycinemia. Pediatr Neurol 1999;20(4):295–300. DOI: 110.1016/S0887-8994(98)00157-X. PMID: 10328279.
14. Mew N. A., Simpson K. L., Gropman A. L. et al. Urea cycle disorders overview. Gene reviews. Available online. Accessed: 176 с. [Tsshoke Y., Hoffman G. Vademecum metabolicum. Diagnosis and treatment of hereditary metabolic diseases. Moscow: PRINTALLOGGI, 2013. 176 p. (In Russ.)].
15. Therrell B. L. Jr, Lloyd-Puryear M. A., Camp K. M., Mann M. Y. Inborn errors of metabolism identified via newborn screening: ten-year incidence data and costs of nutritional interventions for research agenda planning. Mol Genet Metab 2014;113(1–2):14–26. DOI: 110.1016/j.ymgme.2014.07.009. PMID: 25085281.
16. Koopman W. J., Willems P. H., Smeitink J. A. Monogenic mitochondrial disorders. N Engl J Med 2012;366(12): 1132–41. DOI: 110.1056/NEJMra1012478. PMID: 22435372.
17. Wedatilake Y., Brown R. M., McFarland R. et al. SURF1 deficiency: a multi-centre natural history study. Orphanet J Rare Dis 2013;8:96. DOI: 110.1186/1750-1172-8-96. PMID: 23829769.
18. Shapira S. K., Ledley F. D., Rosenblatt D. S., Levy H. L. Ketoacidotic crisis as
19. a presentation of mild (“benign”) methylmalonic acidemia. J Pediatr 1991;119(1 Pt 1):80–4. DOI: 110.1016/S0022-3476(05)81045-5. PMID: 2066863.
20. Lu F. L., Wang P. J., Hwu W. L. et al. Neonatal type of non-ketotic hyperglycinemia. Pediatr Neurol 1999;20(4):295–300. DOI: 110.1016/S0887-8994(98)00157-X. PMID: 10328279.
21. Mew N. A., Simpson K. L., Gropman A. L. et al. Urea cycle disorders overview. Gene reviews. Available online. Accessed: June 22, 2017. DOI: 110.1093/med/ 9780199937837.003.0063. PMID: 20301396.
22. Oberholzer V. G., Levin B., Burgess E. A., Young W. F. Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. Arch Dis Child 1967;42(225):492–504. DOI: 110.1136/adc.42.225.492. PMID: 6061291.
23. Mole S. E., Williams R. E. Neuronal ceroid-lipofuscinosis. Gene Reviews. Avai lable online. Last Update: August 1, 2013. DOI: 110.1093/med/ 9780199590018.001.000. PMID: 20301601.
24. Schulz A., Kohlschütter A., Mink J. et al. NCL diseases – clinical perspectives. Biochim Biophys Acta 2013;1832(11):1801–6.
25. DOI: 110.1016/j.bbadis.2013.04.008. PMID: 23602993.
26. Beaulieu C., D’Arceuil H., Hedehus M. et al. Diffusion-weighted magnetic resonance imaging: theory and potential applications to child neurology. Semin Pediatr Neurol 1999;6(2):87–100. DOI:10.1016/s1071-9091(99)80035-7. PMID: 10404563.
27. Noh G. J., Asher Y. J.T., Graham J. M. Jr. Clinical review of genetic epileptic encephalopathies. Eur J Med Genet 2012;55(5):281–98. DOI: 110.1016/j.ejmg.2011.12.010. PMID: 22342633.
28. Дадали Е. Л., Шарков А. А., Шаркова И. В. и др. Наследственные заболевания и синдромы, сопровождающиеся фебрильными судорогами: клинико-генетические характеристики и способы диагностики. Русский журнал детской неврологии 2016;11(2): 33–41. [Dadali E. L., Sharkov A. A., Sharkova I. V. et al. Hereditary diseases and syndromes accompanied by febrile convulsions: clinical and genetic characteristics and diagnostic procedures. Russkiy zhurnal detskoy nevrologii = Russian Journal of Child Neurology 2016;11(2):33–41. (In Russ.)]. DOI: 110.17650/2073-8803-2016-11-2-33-41.
29. Yu F. H., Mantegazza M., Westenbroek R. E. et al. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nature Neurosci 2006;9(9):1142–9. DOI: 110.1038/nn1754. PMID: 16921370.
30. Meisler M. H., O’Brien J. E., Sharkey L. M. Sodium channel gene family: epilepsy mutations, geneinteractions and modifier effects. J Physiol 2010;588(Pt 11):1841–8. DOI: 110.1113/jphysiol.2010.188482. PMID: 20351042.
31. Audenaert D., Claes L., Ceulemans B. et al. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology 2003;61(6):854–6. DOI: 110.1212/01.wnl.0000080362. 55784.1c. PMID: 14504340.
32. Ryan S. G., Wiznitzer M., Hollman C. et al. Benign familial neonatal convulsions: evidence for clinical and genetic heterogeneity. Ann Neurol 1991;29(5):469–73. DOI: 110.1002/ana.410290504. PMID: 1859177.
33. Singh N. A., Charlier C., Stauffer D. et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18(1):25–9. DOI: 110.1038/ng0198–25. PMID: 9425895.
34. Archer H. L., Whatley S. D., Evans J. C. et al. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. J Med Genet 2006;43(5):451–6. DOI:10.1136/jmg.2005.033464. PMID: 16183801.
35. Witsch-Baumgartner M., Fitzky B. U., Ogorelkova M. et al. Mutational spectrum in the delta-7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet 2000;66(2):402–12. DOI: 110.1086/302760. PMID: 10677299.
36. Oeseburg B., Dijkstra G. J., Groothoff J. W. et al. Prevalence of chronic health conditions in children with intellectual disability: a systematic literature review. Intellect Dev Disabil 2011;49(2):59–85. DOI: 110.1352/1934-9556-49.2.59. PMID: 21446871.
37. Musante L., Ropers H. H. Genetics of recessive cognitive disorders. Trends Genet 2014;30(1):32–9. DOI: 110.1016/j.tig.2013.09.008. PMID: 24176302.
38. Hussain S., Bakhtiar M. S., Farooq M. еt al. Genetic heterogeneity in Pakistani microcephaly families. Clin Genet 2013;83(5):446–51. DOI: 110.1111/j.1399- 0004.2012.01932.x. PMID: 22775483.
39. Mahmood S., Ahmad W., Hassan M. J. Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis 2011;6:39. DOI: 110.1186/1750-1172-6-39. PMID: 21668957.
40. Kumada T., Ito M., Miyajima T. et al. Multi-institutional study on the cor relation between chromosomal abnormalities and epilepsy. Brain Dev 2005;27(2):127–34. DOI: 110.1016/j.braindev.2003.12.010. PMID: 15668053.
41. Valente K. D., Freitas A., Fiore L. A., Kim C. A. A study of EEG and epilepsy profile in Wolf – Hirschhorn syndrome and considerations regarding itscorrelation with other chromosomal disorders. Brain Dev 2003;25:283–7. DOI: 110.1016/s0387-7604(02)00223-1. PMID: 12767462.
42. Verrotti A., Carelli A., di Genova L., Striano P. Epilepsy and chromosome 18 abnormalities. A review. Seizure 2015;32:78–83. DOI: 110.1016/j.seizure 2015.09.013. PMID: 26552569.
43. Sorge G., Sorge A. Epilepsy and chromo so-mal abnormalities. Ital J Pediatr 2010;36:36. DOI: 110/1186/1824-7288-36-36. PMID: 20438626.
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For citations:
Semenova N.A., Dadali E.L., Sharkov A.A., Akimova I.A. Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy. Neuromuscular Diseases. 2017;7(3):36-42. (In Russ.) https://doi.org/10.17650/2222-8721-2017-7-3-36-42
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