×
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
Epileptic encephalopathy
0.310
Biomarker
GENOMICS_ENGLAND
Autozygome and high throughput confirmation of disease genes candidacy.
30237576 2019
×
Entrez Id: 158
Gene Symbol: ADSL
ADSL
Epileptic encephalopathy
0.300
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
Epileptic encephalopathy
0.300
Biomarker
GENOMICS_ENGLAND
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
26795593 2016
×
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
Epileptic encephalopathy
0.320
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
Epileptic encephalopathy
0.320
Biomarker
GENOMICS_ENGLAND
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
22492991 2012
×
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: 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: 1106
Gene Symbol: CHD2
CHD2
Epileptic encephalopathy
0.430
Biomarker
GENOMICS_ENGLAND
×
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: 1759
Gene Symbol: DNM1
DNM1
Epileptic encephalopathy
0.430
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
Epileptic encephalopathy
0.430
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 2257
Gene Symbol: FGF12
FGF12
Epileptic encephalopathy
0.430
Biomarker
GENOMICS_ENGLAND
×
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: 2316
Gene Symbol: FLNA
FLNA
Epileptic encephalopathy
0.300
Biomarker
GENOMICS_ENGLAND
A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.
14988809 2004
×
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
Epileptic encephalopathy
0.300
Biomarker
GENOMICS_ENGLAND
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
28425981 2017
×
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: 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: 2554
Gene Symbol: GABRA1
GABRA1
Epileptic encephalopathy
0.410
Biomarker
GENOMICS_ENGLAND
De novo mutations in epileptic encephalopathies.
23934111 2013
×
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: 10243
Gene Symbol: GPHN
GPHN
Epileptic encephalopathy
0.310
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
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: 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