نتایج جستجو برای: cdkl5
تعداد نتایج: 205 فیلتر نتایج به سال:
Neurological diseases are a heterogenous group of disorders that are related to alterations in nervous system function. The genetic background of neurological diseases is heterogenous and may include chromosomal aberrations, specific gene mutations and epigenetic defects. This review is aimed at presenting of selected diseases that are associated with different epigenetic alterations. The impri...
Objective Epileptic encephalopathy (EE) is a heterogeneous condition associated with deteriorations of cognitive, sensory and/or motor functions as a consequence of epileptic activity. The phenomenon is the most common and severe in infancy and early childhood. Genetic-based diagnosis in EE patients is challenging owing to genetic and phenotypic heterogeneity of numerous monogenic disorders and...
We report on a female patient with severe infantile spasms, profound global developmental arrest, hypsarrhythmia and severe mental retardation, associated with a de novo apparently balanced X;autosome translocation. Her neurological phenotype resembles that of X-linked infantile spasms (ISSX). Molecular study showed that the translocation disrupts a transcript involved in GTPases signalling, IQ...
Epileptic encephalopathies are conditions in which epileptic activity itself is postulated to contribute to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. The term has been used in two ways: (1) as a generic classification term for epilepsies with severe cognitive and be-havioural outcomes and (2) as a pathophysiological...
PURPOSE The management of epilepsy in children is particularly challenging when seizures are resistant to antiepileptic medications, or undergo many changes in seizure type over time, or have comorbid cognitive, behavioral, or motor deficits. Despite efforts to classify such epilepsies based on clinical and electroencephalographic criteria, many children never receive a definitive etiologic dia...
Rett syndrome is a profoundly disabling X-linked neurodevelopmental disorder that predominantly, but not exclusively, occurs in females. It is mainly caused by mutations in the gene MECP2 for methylCpG-binding protein 2 (Xq28 [1]); recently, CDKL5 and FOXG1 have also been described to correspond with the early-seizure onset variant and the congenital variant of Rett syndrome [2, 3]. MECP2 is pr...
Dr. David Kupfer of Worcester, Massachusetts died on December 11, 2004, at the age of 79. The cause of death was a heart attack. Dr. Kupfer was born in Warsaw, Poland, in 1925 to Zalman and Malka Kupfer. In 1933 Zalman moved to Palestine, and in 1934 Malka, David, and his brother, Moshe (Mike), joined him in Tel Aviv. In the 6th grade, David won the all-city Bible contest (for 6th to 8th grader...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید