EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.
|
28074849 |
2017 |
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
De novo mutations in moderate or severe intellectual disability.
|
25356899 |
2014 |
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome.
|
24207121 |
2013 |
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Epileptic encephalopathy
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
To delineate the phenotype of early childhood epileptic encephalopathy due to de novo mutations of CHD2, which encodes the chromodomain helicase DNA binding protein 2.
|
25672921 |
2015 |
Epileptic encephalopathy
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations.
|
25783594 |
2015 |
Epileptic encephalopathy
|
0.430 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
Epileptic encephalopathy
|
0.430 |
GeneticVariation
|
disease |
BEFREE |
Our study provides evidence that de novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures.
|
24207121 |
2013 |
Epileptic encephalopathy
|
0.430 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Epileptic encephalopathy
|
0.430 |
Biomarker
|
disease |
HPO |
|
|
|
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Single variants were found in some known epilepsy-associated genes (namely CHD2, KCNT1, KCNA2 and STXBP1) but not in others (SLC2A1 and SLC6A1).
|
31170314 |
2019 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
CHD2 mutations were identified by application of next-generation sequencing of epilepsy or whole exome sequencing.
|
31677157 |
2019 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
CTD_human |
De novo variants in neurodevelopmental disorders with epilepsy.
|
29942082 |
2018 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In conclusion our study adds relevant features of the CHD2-epilepsy phenotype and confirms that CHD2 mutations produce a distinctive form of myoclonic epilepsy with visual-sensitive seizures.
|
29529558 |
2018 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
We also consider how CHD2 depletion can affect each of these biological mechanisms and how these defects may underpin neurodevelopmental disorders including epilepsy.
|
29962935 |
2018 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
This work underlines the importance to consider a CHD2 involvement in children with intellectual disability and autism spectrum disorder even in the absence of epilepsy at an early age.
|
26754451 |
2016 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy.
|
25783594 |
2015 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
CHD2 haploinsufficiency is known to cause intellectual disability and epilepsy, RGMA haploinsufficiency might explain truncal obesity with onset around puberty observed in our two patients.
|
24932903 |
2014 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The patient had prominent myoclonic seizures and photosensitivity, thus, sharing phenotypic features with previously reported patients with CHD2-related epilepsy.
|
24614520 |
2014 |
Epilepsy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
Epilepsy
|
0.400 |
Biomarker
|
disease |
CTD_human |
We show that de novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively.
|
23708187 |
2013 |
Myoclonic Astatic Epilepsy
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |