نتایج جستجو برای: cdkl5
تعداد نتایج: 205 فیلتر نتایج به سال:
The etiology of mental retardation remains elusive in the majority of cases. Microdeletions within chromosomal bands 5q14.3q15 were recently identified as a recurrent cause of severe mental retardation, epilepsy, muscular hypotonia, and variable minor anomalies. By molecular karyotyping we identified two novel 2.4- and 1.5-Mb microdeletions of this region in patients with a similar phenotype. B...
Epileptiform abnormalities contribute to progressive deterioration of cerebral function. Considered: Ohtahara Syndrome; Early myoclonic epileptic encephalopathy; West Syndrome; Dravet Syndrome; Myoclonic status in not progressive encephalopathies; CDKL5 encephalopaty. Ohtahara syndrome (OS) early infantile encephalopathy (EIEE). Most cases linked to cerebral malformations or very occasionally t...
Case presentation: A previously healthy full term 4 month-old boy, presented by 1 months with tonic jerks of the upper limbs and slight behavior arrest. He had no signs infection history recent vaccination. These became daily, more intense, lateralized associated oral automatisms blinking. They a very brief duration, mostly 20–30 seconds each. EEG showed bilateral temporo-occipital sharp transi...
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