×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Epileptic encephalopathy
0.460
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
2775
Gene Symbol:
GNAO1
GNAO1
Epileptic encephalopathy
0.450
Biomarker
GENOMICS_ENGLAND
By whole-exome sequencing and subsequent mutation screening, we identified de novo heterozygous mutations in GNAO1 , which encodes a Gαo subunit of heterotrimeric G proteins, in four individuals with epileptic encephalopathy .
23993195
2013
×
Entrez Id:
2902
Gene Symbol:
GRIN1
GRIN1
Epileptic encephalopathy
0.440
Biomarker
GENOMICS_ENGLAND
Heterozygous variants of GRIN1 , encoding the GluN1 subunit of the NMDA receptor, have been reported in patients with neurodevelopmental disorders including epileptic encephalopathy , severe intellectual disability, and movement disorders.
28051072
2017
×
Entrez Id:
2902
Gene Symbol:
GRIN1
GRIN1
Epileptic encephalopathy
0.440
Biomarker
GENOMICS_ENGLAND
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
27164704
2016
×
Entrez Id:
2902
Gene Symbol:
GRIN1
GRIN1
Epileptic encephalopathy
0.440
Biomarker
GENOMICS_ENGLAND
De novo mutations in epileptic encephalopathies.
23934111
2013
×
Entrez Id:
773
Gene Symbol:
CACNA1A
CACNA1A
Epileptic encephalopathy
0.430
Biomarker
GENOMICS_ENGLAND
Mutations in the P/Q type calcium channel CACNA1A have been implicated in epileptic encephalopathy , familial hemiplegic migraine, episodic ataxia 2, and spinocerebellar ataxia 6, but not Rett syndrome.
29366381
2018
×
Entrez Id:
2257
Gene Symbol:
FGF12
FGF12
Epileptic encephalopathy
0.430
Biomarker
GENOMICS_ENGLAND
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.
27872899
2016
×
Entrez Id:
1106
Gene Symbol:
CHD2
CHD2
Epileptic encephalopathy
0.430
Biomarker
GENOMICS_ENGLAND
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187
2013
×
Entrez Id:
1759
Gene Symbol:
DNM1
DNM1
Epileptic encephalopathy
0.430
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
1106
Gene Symbol:
CHD2
CHD2
Epileptic encephalopathy
0.430
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
2257
Gene Symbol:
FGF12
FGF12
Epileptic encephalopathy
0.430
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
1759
Gene Symbol:
DNM1
DNM1
Epileptic encephalopathy
0.430
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
9568
Gene Symbol:
GABBR2
GABBR2
Epileptic encephalopathy
0.410
Biomarker
GENOMICS_ENGLAND
"Reply to ""a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype""."
29377213
2018
×
Entrez Id:
9568
Gene Symbol:
GABBR2
GABBR2
Epileptic encephalopathy
0.410
Biomarker
GENOMICS_ENGLAND
GABBR2 is a genetic factor that determines RTT- or EE -like phenotype expression depending on the variant positions.
28856709
2017
×
Entrez Id:
6506
Gene Symbol:
SLC1A2
SLC1A2
Epileptic encephalopathy
0.410
Biomarker
GENOMICS_ENGLAND
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.
27476654
2016
×
Entrez Id:
9568
Gene Symbol:
GABBR2
GABBR2
Epileptic encephalopathy
0.410
Biomarker
GENOMICS_ENGLAND
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
25262651
2014
×
Entrez Id:
2904
Gene Symbol:
GRIN2B
GRIN2B
Epileptic encephalopathy
0.410
Biomarker
GENOMICS_ENGLAND
De novo mutations in epileptic encephalopathies.
23934111
2013
×
Entrez Id:
2554
Gene Symbol:
GABRA1
GABRA1
Epileptic encephalopathy
0.410
Biomarker
GENOMICS_ENGLAND
De novo mutations in epileptic encephalopathies.
23934111
2013
×
Entrez Id:
23258
Gene Symbol:
DENND5A
DENND5A
Epileptic encephalopathy
0.400
Biomarker
GENOMICS_ENGLAND
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
27431290
2017
×
Entrez Id:
23258
Gene Symbol:
DENND5A
DENND5A
Epileptic encephalopathy
0.400
Biomarker
GENOMICS_ENGLAND
Here, we have identified an epileptic encephalopathy additionally featuring cerebral calcifications and coarse facial features caused by recessive loss-of-function mutations in DENND5A .
27866705
2016
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Epileptic encephalopathy
0.400
Biomarker
GENOMICS_ENGLAND
De novo mutations in epileptic encephalopathies.
23934111
2013
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Epileptic encephalopathy
0.400
Biomarker
GENOMICS_ENGLAND
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
23708187
2013
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Epileptic encephalopathy
0.400
Biomarker
GENOMICS_ENGLAND
Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.
23141534
2012
×
Entrez Id:
3192
Gene Symbol:
HNRNPU
HNRNPU
Epileptic encephalopathy
0.400
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
8831
Gene Symbol:
SYNGAP1
SYNGAP1
Epileptic encephalopathy
0.400
Biomarker
GENOMICS_ENGLAND