نتایج جستجو برای: early infantile epileptic encephalopathy
تعداد نتایج: 725871 فیلتر نتایج به سال:
PCDH19 encodes protocadherin 19 on chromosome Xq22.3. This 1,148-amino-acid protein, highly expressed during brain development, could play significant roles in neuronal migration or establishment of synaptic connections. PCDH19 is composed of six exons, with a large first exon encoding the entire extracellular domain of the protein. Heterozygous PCDH19 mutations were initially identified in epi...
Dravet Syndrome (DS) is a rare and severe infantile-onset epileptic encephalopathy. DS research focuses mainly on children. We did systematic review, completed January 18th, 2021, examining the number of clinical studies. show that there are 208 studies children exclusively, 28 adults 116 involving combined. This 7:1 ratio to adult exclusively shows dearth addresses long-term natural history in...
Autosomal recessive intellectual disability (ID) is characterized by extensive genetic heterogeneity. Recently, three mutations in SZT2 were reported in two unrelated children with unexplained infantile epileptic encephalopathy with severe ID. Here we report a European American family with three children having non-syndromic mild or moderate ID without seizures. Whole-exome sequencing of three ...
OBJECTIVE Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies (EIEE13). Functional studies on the first described case demonstrated gain-of-function effects of the mutation. We describe a novel de novo mutation of SCN8A in a patient with epileptic encephalopathy, and functional characterization of the mutant protein. DESIGN Wh...
Early myoclonic encephalopathy (EME) is a rare malignant epileptic syndrome. The erratic myoclonus with or without focal motor seizures, onset before 3 months of age, and persistent suppression-burst pattern in electroencephalograph (EEG) are accepted as the diagnostic criteria for EME. We report an 11 month old infant with EME which was secondary to non-ketotic hyperglycinemia.
OBJECTIVE To determine the clinical and EEG findings in children with infantile spasms at their initial presentation to the Neurophysiology Department, Children's Hospital, Lahore, Pakistan. STUDY DESIGN Observational study. PLACE AND DURATION OF STUDY The Neurophysiology Department, Children's Hospital, Lahore, Pakistan, from January 2008 to December 2010. METHODOLOGY Children aged < 24 ...
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