نتایج جستجو برای: ohtahara syndrome
تعداد نتایج: 621920 فیلتر نتایج به سال:
To the Editor : Ohtahara syndrome (OS) is characterized by early-onset of seizures, suppression-burst patterns on electroencephalogram (EEG), and severe psychomotor retardation (1–3). De novo mutations in the STXBP1 gene, including various point mutations and one complete deletion, have been found in about one-third of Japanese cases of cryptogenic OS (4–6). However, the clinical spectrum of ST...
OBJECTIVE To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. METHODS We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review ...
GABAergic interneurons control the neural circuitry and network activity in the brain. The advances in genetics have identified genes that control the development, maturation and integration of GABAergic interneurons and implicated them in the pathogenesis of epileptic encephalopathies or neurodevelopmental disorders. For example, mutations of the Aristaless-Related homeobox X-linked gene (ARX)...
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