×
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
Epileptic encephalopathy
0.460
Biomarker
GENOMICS_ENGLAND
×
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: 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
×
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: 8243
Gene Symbol: SMC1A
SMC1A
Epileptic encephalopathy
0.310
Biomarker
GENOMICS_ENGLAND
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
16604071 2006
×
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: 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: 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
De novo mutations in epileptic encephalopathies.
23934111 2013
×
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: 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: 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: 5602
Gene Symbol: MAPK10
MAPK10
Epileptic encephalopathy
0.310
Biomarker
GENOMICS_ENGLAND
Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients.
23329067 2013
×
Entrez Id: 23327
Gene Symbol: NEDD4L
NEDD4L
Epileptic encephalopathy
0.300
Biomarker
GENOMICS_ENGLAND
De novo mutations in epileptic encephalopathies.
23934111 2013
×
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: 6263
Gene Symbol: RYR3
RYR3
Epileptic encephalopathy
0.300
Biomarker
GENOMICS_ENGLAND
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
25262651 2014
×
Entrez Id: 51133
Gene Symbol: KCTD3
KCTD3
Epileptic encephalopathy
0.310
Biomarker
GENOMICS_ENGLAND
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
25558065 2015
×
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
Epileptic encephalopathy
0.310
Biomarker
GENOMICS_ENGLAND
We report on the clinical and molecular characterization of a female patient with early-onset epileptic encephalopathy , who was found to carry a de novo novel splice site mutation in SMC1A .
26358754 2015
×
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