کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5719599 1607414 2017 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Original ArticlesClinical and Electroencephalographic Characteristics of Infantile-Onset Epilepsies Caused by Genetic Mutations
ترجمه فارسی عنوان
مقالات اصلی: خصوصیات سلولی و الکتروانسفالوگرافی صرع مبتلا به سرطان پوست ناشی از جهش ژنتیکی
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی پریناتولوژی (پزشکی مادر و جنین)، طب اطفال و بهداشت کودک
چکیده انگلیسی

ObjectivesTo determine whether certain characteristic electroencephalography (EEG) features are indicative of a genetic cause in early-life epilepsy.Study designWe enrolled a total of 100 patients with infantile-onset (<3 years) epilepsy due to known genetic cause (n = 50) and nongenetic cause (acquired, structural, or unknown, n = 50). The genetic group was classified into synaptopathies, channelopathies, mTOR (mammalian target of rapamycin)-opathies, and chromosomal abnormalities. The nongenetic group included epilepsy of unknown cause and structural abnormalities such as brain tumor, focal cortical dysplasia and encephalomalacia. The clinical features, magnetic resonance imaging, and video EEG obtained before 3 years of age and again at follow-up were reviewed. Specifically, the background rhythms and patterns of interictal epileptiform discharges were analyzed to define the EEG characteristics.ResultsThe genetic group was more likely to have seizure recurrence beyond infancy and significant developmental delay (P <.01). The genetic and nongenetic groups showed different EEG patterns in the initial EEGs that persisted in follow-up EEGs. Diffuse slowing with pleomorphic focal/multifocal epileptiform discharges were present more often in the genetic (86%) compared with the nongenetic group (20%) in the initial EEGs (P <.01). The last available follow-up EEG features were similar (81% in genetic versus 17% in nongenetic) to the EEG performed prior to 3 years of age.ConclusionsOur findings suggest a simple guide for genetic screening in children with early-onset epilepsy. Genetic testing may be indicated and useful in infants with delayed development, no obvious cause, and significant EEG background slowing with pleomorphic focal or multifocal epileptiform discharges.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The Journal of Pediatrics - Volume 184, May 2017, Pages 172-177.e1
نویسندگان
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