Çocukluk Çağı Absans Epilepsi

Öz

Absans epilepsi, çocukluk çağı idiyopatik jeneralize nöbet- lerin sık görülen bir formudur. Bu epileptik sendromda nöbetler; gün içinde onlarca kez yineleyen, kısa süreli, farkındalığın ortadan kalktığı ve hareketlerde duraklama- nın gözlendiği bilinç kaybı ile karakterizedir. γ-aminobutirik asid GABA A ve B reseptörleri, Ca+, sodyum ve klor kanalları mutasyonlarının absans epilepsi ile ilişkisi göste- rilmiştir. Glukoz transport defekti-1, erken yaşta tanı alan ve dirençli seyreden absans epilepsi vakalarında kesinlikle taranmalıdır. En iyi prognoz antiepileptik ilaç tedavisine hızlı yanıt veren vakalarda izlenmektedir

Anahtar Kelimeler

• Absans,epilepsi,çocukluk çağı,GLUT1 eksikliği

Childhood Absence Epilepsy

Öz

Absence epilepsy is a common form of childhood idiopathic generalized seizures. Seizures in this epileptic syndrome are characterized by an impairment of consciousness that is repeated several times a day, where brief loss of awa- reness, and interruption of movements are observed. Gamma-aminobutyric acid GABA A and B receptors, Ca+, sodium and chloride channel mutations have been shown to be associated with absent epilepsy. Glucose transport defect 1 should be screened in refractory cases of absence epilepsy diagnosed at an early age. The best prog- nosis is seen in patients who respond rapidly to treatment with antiepileptic drugs

Anahtar Kelimeler

• Absence,childhood,Glucose transporter defect 1

Kaynakça

1. Berg AT, Shinnar S, Levy SR, et al. Newly diagnosed epilepsy in children: presentation at diagnosis. Epilepsia. 1999;40:445-52.
2. https://doi.org/10.1111/j.1528-1157.1999.tb00739.x
3. Waaler PE, Blom BH, Skeidsvoll H, et al.. Prevalence, classification, and severity of epilepsy in children in western Norway. Epilepsia. 2000;41:802-10.
4. https://doi.org/10.1111/j.1528-1157.2000.tb00246.x
5. Panayiotopoulos CP. Idiopathic generalized epilepsies. In: Panayiotopoulos CP, ed. The Epilepsies: Seizures, Syndromes and Management. Oxford, UK: Bladon Medical Publishing; 2005.
6. Wirrell E. Infantile, Childhood, and Adolescent Epilepsies. Continuum (Minneap Minn). 2016;22(1 Epilepsy):60-93.
7. Sadleir LG, Farrell K, Smith S, et al. Electroclinical features of absence seizures in childhood absence epi- lepsy. Neurology. 2006;67:413-8.
8. https://doi.org/10.1212/01.wnl.0000228257.60184.82

9. Panayiotopoulos CP, Obeid T, Waheed G. Differentiation of typical absence seizures in epileptic syndromes. A video EEG study of 224 seizures in 20 patients. Brain. 1989;112:1039-56.
10. https://doi.org/10.1093/brain/112.4.1039
11. Medina MT, Bureau M, Panayiotopoulos CP. Childhood absence epilepsy. In: Bureau M, Genton P, Dravet C, et al. Epileptic Syndromes in infancy, Childhood and Adolescence. 5th ed. Montrouge, France: John Libbey Eurotext Ltd; 2012.
12. Yalçın O. Genes and molecular mechanisms involved in the epileptogenesis of idiopathic absence epilepsies. Seizure. 2012;21:79-86.
13. https://doi.org/10.1016/j.seizure.2011.12.002
14. Suls A, Mullen SA, Weber YG, et al. Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1. Ann Neurol. 2009 Sep;66(3): 415-9.
15. https://doi.org/10.1002/ana.21724
16. Covanis A, Gupta AK, Jeavons PM. Sodium valproate: monotherapy and polytherapy. Epilepsia. 1982;23:693- 720.
17. https://doi.org/10.1111/j.1528-1157.1982.tb05085.x
18. Blomquist HK, Zetterlund B. Evaluation of treatment in typical absence seizures. The roles of long-term EEG monitoring and ethosuximide. Acta Paediatr Scand. 1985;74:409-15.
19. https://doi.org/10.1111/j.1651-2227.1985.tb10994.x
20. Frank LM, Enlow T, Holmes GL, et al. Lamictal (lamotrigine) monotherapy for typical absence seizures in children. Epilepsia 1999;40:973-9.
21. https://doi.org/10.1111/j.1528-1157.1999.tb00805.x
22. Callenbach PM, Bouma PA, Geerts AT, et al. Long- term outcome of childhood absence epilepsy: Dutch study of epilepsy in childhood. Epilepsy Res. 2009;83:249-56.
23. https://doi.org/10.1016/j.eplepsyres.2008.11.011
24. Matricardi S, Verrotti A, Chiarelli F, et al. Advances in childhood absence epilepsy J Pediatr Neurol. 2014;50:205-12.
25. https://doi.org/10.1016/j.pediatrneurol.2013.10.009