ANKMJ
Ankyra Medical Journal

Ankyra Medical Journal (AnkMJ), formerly known as the Journal of Translational and Practical Medicine, regularly publishes international quality issues in the field of Medicine in the light of current information.

eISSN: 3023-655X
Creative Commons CC BY-NC-ND 4.0 International License.
EndNote Style

Online Manuscript System

Index
Original Article
Investigation of the D188V mutation in the SCN1A gene in patients with idiopathic generalized epilepsy
Abstract
Aims: This study aims to investigate the D188V mutation on the sodium channel protein type 1 subunit alpha (SCN1A) in selected patients with idiopathic generalized epilepsy (IGE). The mutation in the SCN1A gene is the most common gene mutation in ion channels and is believed to play an important role in the pathology of IGE.
Methods: This study included patients with IGE selected among patients with epilepsy admitted to the outpatient neurology department of Okmeydanı Training and Research Hospital. Medical history, clinical examination, electroencephalography (EEG), and imaging features of the patients were evaluated. IGE patients with no etiological cause were included in the study. The D188V mutation on the SCN1A gene was investigated by PCR method in the blood samples of the patients.
Results: D188V mutation on the SCN1A gene was investigated in a total of 65 patients, of which 31 were females and 34 were males. None of the cases had a D188V mutation on the SCN1A gene.
Conclusion: Increasing genetic research is promising to elucidate the etiology of many diseases. However, these studies require persistent repetition since they are complex and difficult. The role of genetics in elucidating the etiology of epilepsy is undisputed. Although existing studies support the genetic basis, further studies are still needed.

Keywords : Idiopathic generalized epilepsy, genetics, sodium channel, mutation

Download Article


1. Guberman A, Bruni J. Essentialsof Clinical Epilepsy. Epidemiology.Second edition-USA-1999,3
2. Ryan SG. İon channels and the genetic contribution to epilepsy. JChild Neurol. 1999;(14):58-66.
3. Steinlein OK, Noebels JL. İon channels and epilepsy in man andMouse.Curr Opin Genet Dev. 2000;(10):286-291.
4. İsom LL. The role of sodium channels in cell adhesion. Front Biosci.2002;(7):12-23.
5. Cossette P, Loukas A, Lafreniere RG, et al. Functional characterizationof the D188V mutation in neuronal voltage-gated sodium channelcausing generalized epilepsy with febrile seizures plus (GEFS). EpilepsyRes. 2003;53(1-2):107-117.
6. Saez-Hernandez L, Peral B, Sanz R, Gomez-Garre P, Ayuso C, SerratosaJM. Characterization of a 6p21 translocation breakpoint in a familywith idiopathic generalized epilepsy. Epilepsy Research. 2003;56(2-3):155-163
7. Ohmori I, Ouchhida M, Ohtsuka Y, Oka E, Shimizu K. Significantcorrelation of the SCN1A mutations and severe myoclonic epilepsy ininfancy. Biochem Biophysical Res. Commun. 2002;295(1):17-23.
8. Spampanato J, Escayg A, Meisler MH, Goldin AL. Generalizedepilepsy with febrile seizures plus type 2 mutation W1204R altersvoltagedependent gating of Nav 1.1 sodium channels. Neuroscience.2003;116(1):37-48
9. Chou C, Peng CT, Tsai FJ, Huang CC, Shi YR, Tsai CH. The lackof association between febrile convulsions and polymorphisms inSCN1A. Epilepsy Res. 2003;54(1):53-57.
10. Pineda-Trujillo N, Carrizosa J, Cornejo W, et al. A novel SCN1Amutation associated with severe GEFS+ in a large South Americanpedigree. Seizure. 2005;14(2):123-128.
11. Ito M, Nagafuji H, Okazawa H, et al. Autosomal dominant epilepsywith missense mutations of the Na+ Channel alfa 1 subunit gene,SCN1A. Epilepsy Res . 2002;48(1-2):15-23.
12. Heron SE, Scheffer IE, Iona X, et al. De novo SCN1A mutations inDravet Syndrome and related epileptic encephalopathies are largely ofpaternal origin. J Med Genet. 2010;47(2):137-141.
13. Xu XJ, Zhang YH, Sun HH, Liu XY, Wu HS, Wu XR. Phenotype andSCN1A gene mutation screening in 39 families with in generalizedepilepsy with febrile seizures plus. 2012;50(8):580-586.
14. Lange IM, Mulder F, Von’t Slot R, et al. Modifier genes in SCN1A-related epilepsy syndromes. Mol Genet Genomic Med. 2020;8(4):e1103.
15. Ottmann R, Annegers JF, Risch N, et al. Relations of genetic andenvironmental factors in the etiology of epilepsy. Ann Neurol.1996;39(4):442-449.
16. Eisner V, Pauli LL, Livingston S. Hereditary aspects of epilepsy. BullJohn’s Hopkins Hosp. 1959;105:245-271.
17. Lennox WG. The genetics of epilepsy. Am J Psychiatr. 1947;103(4):457-462.
18. Annegers JF, Hauser WA, Anderson BE, et al. Risk of seizures amongrelatives of patients with epilepsy: families in a defined population.Genetic Basis Epilepsies. 1982;(1):151-159.
19. Hauser WA, Annegers JF, Anderson VE, Kurland LT. The risk ofseizure disorders among relatives of children with febrile convulsions.Neurology. 1985;35(9):1268-1273
Article available in :
Volume 3, Issue 4, 2024
Page : 79-83
https://doi.org/10.51271/ANKMJ-0019
Article Information
Received : 13 Haz 2024
Accepted : 09 Tem 2024
Published : 23 Tem 2024
Corresponding Author :

Hatice Seğmen: Department of Neurology, İstanbul Kanuni Sultan Süleyman Training and Research Hospital, University of Health Sciences, İstanbul, Turkiye

[email protected]
Citation : Seğmen H, Tanık O. Investigation of the D188V mutation in the SCN1A gene in patients with idiopathic generalized epilepsy. Ank Med J. 2024;3(4):79-83.

Read: 289
Cited: 0
Download : 119
_Footer