×
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