×
Entrez Id:
1384
Gene Symbol:
CRAT
CRAT
Seizures
0.100
GeneticVariation
CLINVAR
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early-onset case of Leigh syndrome.
31448845
2020
×
Entrez Id:
6659
Gene Symbol:
SOX4
SOX4
Seizures
0.100
GeneticVariation
CLINVAR
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
30661772
2019
×
Entrez Id:
4576
Gene Symbol:
TRNT
TRNT
Seizures
0.100
CausalMutation
CLINVAR
Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.
30236074
2018
×
Entrez Id:
4576
Gene Symbol:
TRNT
TRNT
Seizures
0.100
CausalMutation
CLINVAR
CO2 -sensitive tRNA modification associated with human mitochondrial disease.
29760464
2018
×
Entrez Id:
23065
Gene Symbol:
EMC1
EMC1
Seizures
0.100
GeneticVariation
CLINVAR
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
27657687
2017
×
Entrez Id:
101927895
Gene Symbol:
EMC1-AS1
EMC1-AS1
Seizures
0.100
GeneticVariation
CLINVAR
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
27657687
2017
×
Entrez Id:
815
Gene Symbol:
CAMK2A
CAMK2A
Seizures
0.100
CausalMutation
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
816
Gene Symbol:
CAMK2B
CAMK2B
Seizures
0.100
CausalMutation
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
816
Gene Symbol:
CAMK2B
CAMK2B
Seizures
0.100
GeneticVariation
CLINVAR
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
29100089
2017
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
Seizures
0.100
GeneticVariation
CLINVAR
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
28213671
2017
×
Entrez Id:
10522
Gene Symbol:
DEAF1
DEAF1
Seizures
0.100
GeneticVariation
CLINVAR
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
28940898
2017
×
Entrez Id:
55624
Gene Symbol:
POMGNT1
POMGNT1
Seizures
0.100
CausalMutation
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
547
Gene Symbol:
KIF1A
KIF1A
Seizures
0.100
CausalMutation
CLINVAR
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
26486474
2016
×
Entrez Id:
84126
Gene Symbol:
ATRIP
ATRIP
Seizures
0.100
CausalMutation
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
TSPEAR-AS1
Seizures
0.100
GeneticVariation
CLINVAR
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
27736875
2016
×
Entrez Id:
128989
Gene Symbol:
TANGO2
TANGO2
Seizures
0.100
CausalMutation
CLINVAR
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
26805781
2016
×
Entrez Id:
54084
Gene Symbol:
TSPEAR
TSPEAR
Seizures
0.100
GeneticVariation
CLINVAR
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
27736875
2016
×
Entrez Id:
259232
Gene Symbol:
NALCN
NALCN
Seizures
0.100
CausalMutation
CLINVAR
A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
26923739
2016
×
Entrez Id:
4285
Gene Symbol:
MIPEP
MIPEP
Seizures
0.100
CausalMutation
CLINVAR
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
27799064
2016
×
Entrez Id:
8417
Gene Symbol:
STX7
STX7
Seizures
0.100
GeneticVariation
CLINVAR
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
26395554
2016
×
Entrez Id:
1892
Gene Symbol:
ECHS1
ECHS1
Seizures
0.100
GeneticVariation
CLINVAR
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
26938784
2016
×
Entrez Id:
23065
Gene Symbol:
EMC1
EMC1
Seizures
0.100
GeneticVariation
CLINVAR
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
26942288
2016
×
Entrez Id:
101927895
Gene Symbol:
EMC1-AS1
EMC1-AS1
Seizures
0.100
GeneticVariation
CLINVAR
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
26942288
2016
×
Entrez Id:
2257
Gene Symbol:
FGF12
FGF12
Seizures
0.100
GeneticVariation
CLINVAR
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.
27872899
2016
×
Entrez Id:
23732
Gene Symbol:
FRRS1L
FRRS1L
Seizures
0.100
CausalMutation
CLINVAR
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
27236917
2016