نتایج جستجو برای: early infantile epileptic encephalopathy
تعداد نتایج: 725871 فیلتر نتایج به سال:
STXBP1 HAPLOINSUFFICIENCY IN EARLY ONSET EPILEPTIC ENCEPHALOPATHY Early onset epileptic encephalopathies that occur in very early childhood are rare but particularly catastrophic forms of epilepsy that are invariably associated with significant neurological morbidity (Nordli, 2012). Mutations in the Syntaxin Binding Protein 1 (STXBP1) gene have been linked with two distinct but related forms of...
OBJECTIVE Epilepsy and intellectual/developmental disabilities (ID/DD) have a high rate of co-occurrence. Here, we investigated gene mutations in Chinese children with unexplained epilepsy and ID/DD. METHODS We used targeted next-generation sequencing to detect mutations within 300 genes related to epilepsy and ID/DD in 253 Chinese children with unexplained epilepsy and ID/DD. A series of fil...
Epileptic encephalopathy syndromes are disorders in which the epileptiform abnormalities are thought to contribute to a progressive cerebral dysfunction. Characteristic electroencephalogram findings have an important diagnostic value in classification of epileptic encephalopathy syndromes. In this paper, we focus on electroencephalogram findings of childhood epileptic encephalopathy syndromes a...
Investigators from Yokohama City University and other medical centers in Israel and Japan reported mutations on N-methyl-D-aspartate (NMDA) receptors subunit GRIN1 (GluN1) identified in patients with nonsyndromic intellectual disability and early-onset epileptic encephalopathy.
We apply a novel gene expression network analysis to a cohort of 182 recently reported candidate Epileptic Encephalopathy genes to identify those most likely to be true Epileptic Encephalopathy genes. These candidate genes were identified as having single variants of likely pathogenic significance discovered in a large-scale massively parallel sequencing study. Candidate Epileptic Encephalopath...
Background: Cerebral palsy is a heterogeneous disorder that can cause lifelong disability associated with non-progressive damage in the brain. It commonly caused by antenatal, perinatal, early postnatal and neonatal conditions. However, post-neonatal cases of acquired cerebral have also been reported, were infection. Patients Methods: The family girl from Qatar, who developed severe submersion ...
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