SYNGAP1 encephalopathy

SYNGAP1: Mind the Gap

A cardinal feature of early stages of human brain development centers on the sensory, cognitive, and emotional experiences that shape neuronal-circuit formation and refinement. Consequently, alterations in these processes account for many psychiatric and neurodevelopmental disorders. Neurodevelopment disorders affect 3-4% of the world population. The impact of these disorders presents a major c...

Erratum: Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

OBJECTIVE We aimed to delineate the neurodevelopmental spectrum associated with SYNGAP1 mutations and to investigate genotype-phenotype correlations. METHODS We sequenced the exome or screened the exons of SYNGAP1 in a total of 251 patients with neurodevelopmental disorders. Molecular and clinical data from patients with SYNGAP1 mutations from other centres were also collected, focusing on de...

Stem Cell Therapy in Hypoxic Ischemic Encephalopathy

Introduction there are one million deaths from asphyxia in newborn annually. Management of this newborn is only supportive. Autologuse stem cell therapy may reduce mortality and long term morbidity. Outcome of asphyxiated newborn is related to damage CNS cells. Stem cells prevent Apoptosis and induce repairmen of injured neurons. Methods in a review study all article related to three keyword...

Case Report of Encephalopathy in Goats

hypertensive encephalopathy

how to cite this article: sharifian m. hypertensive encephalopathy. iran j child neurol 2012; 6(3):1-7. hypertension is called the silent killer and vital organs such as the brain, eyes,kidneys and the heart are the targets. seizure, central nervous system (cns)hemorrhage, and cerebrovascular accident (cva), blindness and heart attacksare the end points.the prevalence of hypertension in childre...