چاپ صفحه |  صفحه نخست سامانه |  نویسندگان |  اطلاعات تفضیلی |  دانلود مقاله | دانشگاه علوم پزشکی تبریز |
| نویسنده | نفر چندم مقاله |
|---|---|
| سعید چارسوئی | اول |
| عنوان | متن |
|---|---|
| کلمات کلیدی | Focal epilepsy,genetic,epilepsy |
| خلاصه مقاله | Focal genetic epilepsies Saeid Charsouei,MD,Associate Prof.of Neurology, Fellowship in Epilepsy Tabriz University of Medical Sciences Focal epilepsies account for 60% of all forms of epilepsy and traditionally have been regarded as largely acquired disorders . However, genetic factors play a major role in the pathogenesis of focal epilepsies. Nonlesional focal epilepsies represent a heterogenous group of syndromes . They are self-limited focal epilepsies of childhood and youth, rare focal, familial epilepsies, epilepsies associated with brain somatic variants, and to a large extent nonfamilial epilepsies that have a complex genetic or unknown background. Genetic testing should be performed in cases of a family history suggestive of monogenic inheritance and in cases that show additional symptoms, such as intellectual impairment, autism, or dysmorphic features. Whole-exome or whole-genome sequencing is the method of choice. Growing evidence suggests including genetic testing also in the presurgical workup of individuals with drug-resistant epilepsy. While individuals that harbor variants in genes of the mammalian target of rapamycin (mTOR) pathway tend to achieve better seizure control following epilepsy surgery,but the postsurgical outcome of genetic epilepsies associated with channel function or synaptic transmission appears to be poor. Familial mesial temporal lobe epilepsy is a typically benign syndrome that accounts for one-fifth of new diagnoses of nonlesional mesial temporal lobe epilepsy . Seizures are easily controlled with antiepileptic drugs and may even remit spontaneously. However, drug resistance forms have also been described . Autosomal dominant sleep-related hypermotor epilepsy or autosomal dominant nocturnal frontal lobe epilepsy is characterized by clusters of brief nocturnal focal motor seizures, with hyperkinetic or tonic manifestation that displays autosomal dominant inheritance, with a penetrance of ∼70% . |
| نام فایل | تاریخ درج فایل | اندازه فایل | دانلود |
|---|---|---|---|
| Dr Charsoie-1.pdf | 1402/08/11 | 1149940 | دانلود |
| Focal genetic epilepsies.docx | 1402/08/11 | 13360 | دانلود |
| Certificate 1402 tehran.pdf | 1402/08/11 | 59714 | دانلود |
