Edibe PEMBEGÜL YILDIZ, Gonca BEKTAŞ, Mine ÇALIŞKAN

Çocukluk Çağı Absans Epilepsi

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

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

Keywords:

Absence, childhood, Glucose transporter defect 1,

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