Epileptic Syndromes: From Clinic to Genetic

Overview

Journal Iran J Neurol

Publisher Tehran University of Medical Sciences

Date 2015 Apr 16

PMID 25874049

Citations 1

Authors

Abbas Tafakhori

Vajiheh Aghamollaii

Sara Faghihi-Kashani

Payam Sarraf

Laleh Habibi

Affiliations

Soon will be listed here.

Abstract

Epilepsy is one of the most common neurological disorders. Studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. Mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types of this disease. Moreover, some chromosomal aberration including ring chromosomes will result in epilepsy. In this review, we intend to highlight the role of molecular genetic in etiology of epilepsy syndromes, inspect the most recent classification of International League against Epilepsy and discuss the role of genetic counseling and genetic testing in management of epilepsy syndromes. Furthermore, we emphasize on collaboration of neurologists and geneticists to improve diagnosis and management.

Citing Articles

Diagnostic implications of neuroimaging in epilepsy and other seizure disorders.

Nieto-Salazar M, Velasquez-Botero F, Toro-Velandia A, Saldana-Rodriguez E, Rodriguez-Rodriguez M, Gupta A Ann Med Surg (Lond). 2023; 85(2):73-75.

PMID: 36845800 PMC: 9949781. DOI: 10.1097/MS9.0000000000000155.

References

Cossette P . Channelopathies and juvenile myoclonic epilepsy. Epilepsia. 2010; 51 Suppl 1:30-2. DOI: 10.1111/j.1528-1167.2009.02439.x. View

Jurkat-Rott K, Lerche H, Weber Y, Lehmann-Horn F . Hereditary channelopathies in neurology. Adv Exp Med Biol. 2010; 686:305-34. DOI: 10.1007/978-90-481-9485-8_18. View

Langer J . Prenatal diagnosis of congenital anomalies. What can and should be done?. Can Fam Physician. 1993; 39:595-602. PMC: 2379780. View

Sorge G, Sorge A . Epilepsy and chromosomal abnormalities. Ital J Pediatr. 2010; 36:36. PMC: 2888835. DOI: 10.1186/1824-7288-36-36. View

Kaneko S, Wada K . [Molecular genetic studies of epilepsies]. No To Shinkei. 1999; 50(12):1071-7. View

Allen A, Cossette P, Delanty N, Eichler E, Goldstein D, Han Y . De novo mutations in epileptic encephalopathies. Nature. 2013; 501(7466):217-21. PMC: 3773011. DOI: 10.1038/nature12439. View

Scharfman H . The neurobiology of epilepsy. Curr Neurol Neurosci Rep. 2007; 7(4):348-54. PMC: 2492886. DOI: 10.1007/s11910-007-0053-z. View

Kaneko S, Okada M, Iwasa H, Yamakawa K, Hirose S . Genetics of epilepsy: current status and perspectives. Neurosci Res. 2002; 44(1):11-30. DOI: 10.1016/s0168-0102(02)00065-2. View

Mefford H, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C . Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 2010; 6(5):e1000962. PMC: 2873910. DOI: 10.1371/journal.pgen.1000962. View

10.

Al-Rajeh S, Abomelha A, Awada A, Bademosi O, Ismail H . Epilepsy and other convulsive disorders in Saudi Arabia: a prospective study of 1,000 consecutive cases. Acta Neurol Scand. 1990; 82(5):341-5. DOI: 10.1111/j.1600-0404.1990.tb03313.x. View

11.

Mole S, Williams R, Goebel H . Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics. 2005; 6(3):107-26. DOI: 10.1007/s10048-005-0218-3. View

12.

Asadi-Pooya A . Epilepsy and consanguinity in Shiraz, Iran. Eur J Paediatr Neurol. 2005; 9(6):383-6. DOI: 10.1016/j.ejpn.2005.06.002. View

13.

Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon J, Khantane S . Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. Neurology. 2008; 72(9):784-92. DOI: 10.1212/01.wnl.0000336339.08878.2d. View

14.

Akiyama M, Kobayashi K, Ohtsuka Y . Dravet syndrome: a genetic epileptic disorder. Acta Med Okayama. 2012; 66(5):369-76. DOI: 10.18926/AMO/48961. View

15.

Faed M, MORTON H, Robertson J . Ring F chromosome mosaicism (46,XY,20r-46,XY) in an epileptic child without apparent haematological disease. J Med Genet. 1972; 9(4):470-3. PMC: 1469060. DOI: 10.1136/jmg.9.4.470. View

16.

Berg A, Millichap J . The 2010 revised classification of seizures and epilepsy. Continuum (Minneap Minn). 2013; 19(3 Epilepsy):571-97. PMC: 10564058. DOI: 10.1212/01.CON.0000431377.44312.9e. View

17.

Beletsky V, Mirsattari S . Epilepsy, mental health disorder, or both?. Epilepsy Res Treat. 2012; 2012:163731. PMC: 3420407. DOI: 10.1155/2012/163731. View

18.

Kumada T, Ito M, Miyajima T, Fujii T, Okuno T, Go T . Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy. Brain Dev. 2005; 27(2):127-34. DOI: 10.1016/j.braindev.2003.12.010. View

19.

Singh R, Gardner R, Crossland K, Scheffer I, Berkovic S . Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia. 2002; 43(2):127-40. DOI: 10.1046/j.1528-1157.2002.19498.x. View

20.

Berkovic S, Howell R, Hay D, Hopper J . Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol. 1998; 43(4):435-45. DOI: 10.1002/ana.410430405. View