×
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