کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3051198 1185975 2008 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب رفتاری
پیش نمایش صفحه اول مقاله
Clinical and electroencephalographic features in patients with CDKL5 mutations: Two new Italian cases and review of the literature
چکیده انگلیسی

Clinical features and electroencephalographic findings of two patients affected by a previously unreported cyclin-dependent kinase-like 5 (CDKL5) gene mutation are described. Both patients had the Hanefeld variant phenotype with early-onset seizures, but different degrees of clinical severity. In fact, patient 1 was not drug-resistant and is responding to a single drug. On the contrary, patient 2, like most reported cases, has severe epilepsy, exhibits electroencephalographic changes, and is drug resistant. We suggest that the pseudoperiodic patterns observed on the EEGs for these cases represent this genetic form of epilepsy, though differing in frequency, voltage, and associated patterns. This is in agreement with data reported by other authors indicating that no unique pattern can be identified in subjects with CDKL5 mutations. Thus, a CDKL5 investigation should be performed in developmentally delayed patients with early-onset seizures, including drug-resistant subjects with severe EEG changes, as well as in patients with milder, drug-responsive forms of epilepsy.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Epilepsy & Behavior - Volume 12, Issue 2, February 2008, Pages 326–331
نویسندگان
, , , , , , , ,