Genetic heterogeneity in epilepsy: family reports

Authors

  • Deysi Licourt Otero Centro Provincial de Genética Médica. Pinar del Río.
  • Odilkys Cala Hernández Centro de Genética Médica. Pinar del Río.
  • Anitery Travieso Téllez Centro provincial de Genética Médica. Pinar del Río.
  • Miladys Orraca Castillo Centro de Genética Médica. Pinar del Río.

Keywords:

Epilepsy/diagnosis/genetics/etiology, Genetic heterogeneity

Abstract

Current knowledge suggests that epilepsy is clinically and genetically heterogeneous. Inherited factors seem to suggest any genetic susceptibility, but with any exceptions; on their own they are neither capable of provoking any clinical manifestations nor follow classic Mendelian inheritance patterns. The degree of genetic penetrance may depend greatly on other genes which, together with environmental factors, may contribute with the development and worsening of epilepsy. Genetic heterogeneity of epilepsy was described by reporting three families; other individuals have been studied in these families starting from index case, with consanguinity, suffering from several types of epilepsies, disabilities and diseases of multifactorial origin. This is a new topic applied to the field of medical genetics, projected towards the diseases of multifactorial origin.

Downloads

Download data is not yet available.

Author Biographies

Deysi Licourt Otero, Centro Provincial de Genética Médica. Pinar del Río.

Especialista de Primer Grado en Medicina General Integral y Genética Clínica y Segundo Grado en Genética Clínica. Máster en Atención Integral al niño. Investigadora agregada. Asistente.

Odilkys Cala Hernández, Centro de Genética Médica. Pinar del Río.

Licenciada en defectología. Máster en Atención Integral al Niño.

Anitery Travieso Téllez, Centro provincial de Genética Médica. Pinar del Río.

Especialista de Primer Grado en Genética Clíinica. Instructora.

Miladys Orraca Castillo, Centro de Genética Médica. Pinar del Río.

Doctora en Ciencias Médicas. Especialista de Primer y Segundo Grado en Genética Clínica. Profesora Titula

References

1. Rosado García FM, Núñez Fernández FA, Ruiz Espinosa A, Rojas Rivero L, Andrade Machado R, Kanaobana K, Polman K. Parasitosis intestinales en pacientes con epilepsia de origen desconocido. Rev Cubana Med Trop[serie en Internet]. abr-jun. 2013[citado 10 Ene 2014]; 65(2): [aprox. 6 pantallas]. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0375-07602013000200012

2. Conde Pérez YA, Díaz González D, Conde Pérez M, Navia Reyes I, Conde Fernández B. Epidemiología clínica de la epilepsia en la población adulta del municipio Sancti Spíritus. Gac Méd Espirit[serie en Internet]. mayo-ago. 2013[citado 10 Ene 2014]; 15(2): [aprox. 6 pantallas]. Disponible en: http://scielo.sld.cu/scielo.php?pid=S1608-89212013000200004&script=sci_arttext

3. Iglesias More S, Fabelo Roche JR, Rojas Velásquez Y , González Pal R , Ramirez Muñoz A. Calidad de vida en niños y adolescentes con epilepsia. Rev Cubana Enfermer[serie en Internet]. abr.-jun. 2012[citado 10 Ene 2014]; 28(2) [aprox. 6 pantallas]. Disponible en: http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-03192012000200005

4. Gustavo A. Charria-Ortiz. Genética de las epilepsias. Actualizaciones en neurología infantil medicina [serie en Internet]. 2007 [citado 10 Ene 2014]; 67(1): [aprox. 13 pantallas]. Disponible en: http://www.medicinabuenosaires.com/demo/revistas/vol67-07/n6-1/v67_6-1_p601_613_.pdf

5. Pal D.K, Greenberg D.A. Evaluating Genetic Heterogeneity in Complex Disorders. Human Heredity[serie en Internet]. 2002[citado 10 Ene 2014]; 53(4): [aprox. 7 pantallas]. Disponible en: http://www.karger.com/Article/FullText/66195

6. Lantigua Cruz A. Introducción a la Genética Médica. La Habana: Editorial Ciencias Médicas; 160-161.

7. Maradei-Anaya SJ, Espinosa E, Izquierdo A, Velasco-Parra HM. Detección de rearreglos subteloméricos por MLPA en pacientes pediátricos con epilepsia refractaria en Colombia: papel del gen CHL1 en la farmacorresistencia. Rev Neurol[serie en Internet]. 2013[citado 10 Ene 2014]; 57(10): [aprox. 6 pantallas].Disponible en: http://www.neurologia.com/pdf/Web/5710/bk100444.pdf

8. Artigas-Pallarés J, Guitart M, Gabau-Vila E. Bases genéticas de los trastornos del neurodesarrollo. Rev Neurol[serie en Internet]. 2013[citado 10 Ene 2014]; 56(Supl 1): [aprox. 2 pantallas]. Disponible en: http://www.neurologia.com/pdf/Web/56S01/bjS01S023.pdf

9. Weizmann Institute of Medicine. Crown Human Genome Center, Department of Molecular Genetics. The Human Gene Compendium. GeneCards: CHL1. [serie en Internet]. 2013; [aprox. 2 pantallas]. Disponible en: http://www.genecards.org [citado 10 Ene 2014]

10. Meisler MH, O'Brien JE. Gene Interactions and Modifiers in Epilepsy. In: Jasper's Basic Mechanisms of the Epilepsies[Internet]. 4th edition; USA: Oxford University Press; 2012. Disponible en: http://www.ncbi.nlm.nih.gov/books/NBK98163/ [citado 10 Ene 2014]

11. Jeffrey L Noebels, Massimo Avoli, Michael A Rogawski, Richard W Olsen, Delgado-Escueta AV. Jasper's Basic Mechanisms of the Epilepsies, [serie en Internet]. 2012. [citado 10 Ene 2014]; 4th edition. Disponible en: http://www.ncbi.nlm.nih.gov/books/n/jaspers2011/TOC/

12. Ruth Ottman, Neil Risch. Genetic Epidemiology and Gene Discovery in Epilepsy. In: Jasper's Basic Mechanisms of the Epilepsies [Internet]. 2012. [citado 10 Ene 2014]; 4th edition. Disponible en: http://www.ncbi.nlm.nih.gov/books/NBK98200/

13. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet[serie en Internet]. 2010[citado 10 Ene 2014]; 86(5): [aprox. 15 pantallas].Disponible en: http://www.sciencedirect.com/science/article/pii/S0002929710002089

14. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, et al. A copy number variation morbidity map of developmental delay. Nat Genet[serie en Internet]. 2011[citado 10 Ene 2014]; 43: [aprox. 8 pantallas]. Disponible en: http://www.nature.com/ng/journal/v43/n9/abs/ng.909.html

15. Coe BP, Girirajan S, Eichler EE. The genetic variability and commonality of neurodevelopmental disease. Am J Med Genet Part C Semin Med Genet[serie en Internet]. 2012[citado 10 Ene 2014]; 160C(2): [aprox. 11 pantallas]. Disponible en: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31327/full

16. Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, et al. An evidence based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med[serie en Internet]. 2011. [citado 10 Ene 2014]; 13(9): [aprox. 7 pantallas]. Disponible en: http://www.nature.com/gim/journal/v13/n9/abs/gim2011130a.html

Downloads

Published

2015-02-28

How to Cite

1.
Licourt Otero D, Cala Hernández O, Travieso Téllez A, Orraca Castillo M. Genetic heterogeneity in epilepsy: family reports. Rev Ciencias Médicas [Internet]. 2015 Feb. 28 [cited 2025 Aug. 22];19(1):141-50. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/1744

Issue

Vol. 19 No. 1 (2015)

Section

CASE REPORTS

License

Authors who have publications with this journal agree to the following terms: Authors will retain their copyrights and grant the journal the right of first publication of their work, which will be publication of their work, which will be simultaneously subject to the Creative Commons Attribution License (CC-BY-NC 4.0) that allows third parties to share the work as long as its author and first publication in this journal are indicated.

Authors may adopt other non-exclusive license agreements for distribution of the published version of the work (e.g.: deposit it in an institutional telematic archive or publish it in a volume). Likewise, and according to the recommendations of the Medical Sciences Editorial (ECIMED), authors must declare in each article their contribution according to the CRediT taxonomy (contributor roles). This taxonomy includes 14 roles, which can be used to represent the tasks typically performed by contributors in scientific academic production. It should be consulted in monograph) whenever initial publication in this journal is indicated. Authors are allowed and encouraged to disseminate their work through the Internet (e.g., in institutional telematic archives or on their web page) before and during the submission process, which may produce interesting exchanges and increase citations of the published work. (See The effect of open access). https://casrai.org/credit/