نتایج جستجو برای: lissencephaly
تعداد نتایج: 686 فیلتر نتایج به سال:
Malformations of the cerebral cortex are often causes epilepsy. The latest changes in their classification summarized. description lissencephaly and Miller–Dicker syndrome, pachygyria, polymicrogyria, hemimegaloencephaly, holoprosencephaly, schizencephaly, gray matter heterotopia is given. features epilepsy these diseases described. Magnetic resonance imaging scans for focal cortical dysplasia,...
Toward a therapeutic intervention of lissencephaly, we applied a novel calpain inhibitor, SNJ1945. Peri-natal or post-natal treatment with SNJ1945 rescued defective neuronal migration in Lis1⁺/⁻ mice, impaired behavioral performance and improvement of ¹⁸F-FDG uptake. Furthermore, SNJ1945 improved the neural circuit formation and retrograde transport of NFG in Lis1⁺/⁻ mice. Thus, SNJ1945 is a po...
Lissencephaly is a rare brain malformation characterized histologically by arrested neuronal migration such that the brain resembles that of a fetus before 23-24 weeks gestation. We studied a neonate with lissencephaly by using diffusion tensor imaging and suggest the dysplastic densely cellular layer IV is visible as a band of anisotropic diffusion. Fiber tracking showed lack of connectivity b...
Dandy-Walker malformation is characterised by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. Approximately 70-90% of patients have hydrocephalus. Lissencephaly is characterised by absence (agyria) or incomplete development (pachygyria) of the gyri of the cerebral cortex, causing the brain's surface to appear un...
Symptomatic West syndrome has heterogeneous backgrounds. Recently, two novel genes, ARX and CDKL5, have been found to be responsible for cryptogenic West syndrome or infantile spasms. Both are located in the human chromosome Xp22 region and are mainly expressed and play roles in fetal brain. Moreover, several genes responsible for brain malformations including lissencephaly, which is frequently...
background: x-linked lissencephaly with ambiguous genitalia (xlag) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. xlag is responsible for a severe neurological disorder of neonatal onset in boys. a gyration defect con...
Deletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical thickening; however, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (MDS). At the clinical level, these two phenotypes can be differentiated by the presence of significant dysmorphic facial features an...
X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/ LIS) is an intriguing disorder of cortical development, which causes classical lissencephaly with severe mental retardation and epilepsy in hemizygous males, and subcortical laminar heterotopia (SCLH) associated with milder mental retardation and epilepsy in heterozygous females. Here we report an exclusion mapping stud...
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