Condition: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET


rs398122998 in CHD2 gene and EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET PMID 24207121 2013 De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 28074849 2017 Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.