×
Entrez Id: 8021
Gene Symbol: NUP214
NUP214
Epileptic encephalopathy
0.300
Biomarker
GENOMICS_ENGLAND
NUP214 deficiency causes severe encephalopathy and microcephaly in humans.
30758658 2019
×
Entrez Id: 6263
Gene Symbol: RYR3
RYR3
Epileptic encephalopathy
0.300
Biomarker
GENOMICS_ENGLAND
Novel West syndrome candidate genes in a Chinese cohort.
29667327 2018
×
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
Epileptic encephalopathy
0.300
Biomarker
GENOMICS_ENGLAND
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
28892148 2018
×
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: 9863
Gene Symbol: MAGI2
MAGI2
Epileptic encephalopathy
0.300
Biomarker
GENOMICS_ENGLAND
MAGI2 Mutations Cause Congenital Nephrotic Syndrome.27932480 2017
×
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: 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: 23327
Gene Symbol: NEDD4L
NEDD4L
Epileptic encephalopathy
0.300
Biomarker
GENOMICS_ENGLAND
De novo mutations in epileptic encephalopathies.
23934111 2013
×
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: 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: 9373
Gene Symbol: PLAA
PLAA
Epileptic encephalopathy
0.310
Biomarker
GENOMICS_ENGLAND
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.
28007986 2017
×
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: 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: 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: 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: 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: 6513
Gene Symbol: SLC2A1
SLC2A1
Epileptic encephalopathy
0.330
Biomarker
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308 2016
×
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