A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II
نویسندگان
چکیده
منابع مشابه
Brain somatic mutations in MTOR leading to focal cortical dysplasia
Focal cortical dysplasia type II (FCDII) is a focal malformation of the developing cerebral cortex and the major cause of intractable epilepsy. However, since the molecular genetic etiology of FCD has remained enigmatic, the effective therapeutic target for this condition has remained poorly understood. Our recent study on FCD utilizing various deep sequencing platforms identified somatic mutat...
متن کاملFocal cortical dysplasia – review
Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults.Both genetic and acquired factors are involved in the pathogenesis of cortical dysplasia. Numerous classifications of the complex structural abnormalit...
متن کاملFocal Cortical Dysplasia.
Focal cortical dysplasias are common malformations of cerebral cortical development and are highly associated with medically intractable epilepsy. They have been classified into neuropathological subtypes (type Ia, Ib, IIa, IIb, and III) based on the severity of cytoarchitectural disruption--tangential or radial dispersion, or loss of laminar structure--and the presence of unique cells types su...
متن کاملClinical and immunohistochemical characteristics of type II and type I focal cortical dysplasia
Focal cortical dysplasia (FCD) II and I are major causes for drug-resistant epilepsy. In order to gain insight into the possible correlations between FCD II and FCD I, different clinical characteristics and immunohistochemical expression characteristics in FCD I and II were analyzed. The median age of onset and duration of epilepsy in FCD I and FCD II patients were 2.1 years and 5.3 years vs 2....
متن کاملA quantitative study of white matter hypomyelination and oligodendroglial maturation in focal cortical dysplasia type II
PURPOSE A diagnostic feature of focal cortical dysplasia (FCD) type II on magnetic resonance imaging (MRI) is increased subcortical white matter (WM) signal on T2 sequences corresponding to hypomyelination, the cause of which is unknown. We aimed to quantify WM pathology in FCD type II and any deficiency in the numbers and differentiation of oligodendroglial (OL) cell types within the dysplasia...
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ژورنال
عنوان ژورنال: Experimental & Molecular Medicine
سال: 2019
ISSN: 1226-3613,2092-6413
DOI: 10.1038/s12276-019-0277-4