|
| Entrez Id: |
25977 |
| Gene Symbol: |
NECAP1 |
NECAP1
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21.
|
30626896 |
2019 |
|
| Entrez Id: |
25977 |
| Gene Symbol: |
NECAP1 |
NECAP1
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
25977 |
| Gene Symbol: |
NECAP1 |
NECAP1
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
6334 |
| Gene Symbol: |
SCN8A |
SCN8A
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.
|
29121005 |
2018 |
|
SCN1A-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
|
28708303 |
2018 |
|
| Entrez Id: |
2775 |
| Gene Symbol: |
GNAO1 |
GNAO1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.
|
29390993 |
2018 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
|
28708303 |
2018 |
|
| Entrez Id: |
2775 |
| Gene Symbol: |
GNAO1 |
GNAO1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
|
SCN1A-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
|
29186148 |
2017 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.
|
27779742 |
2017 |
|
| Entrez Id: |
2775 |
| Gene Symbol: |
GNAO1 |
GNAO1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
|
28688840 |
2017 |
|
SCN1A-AS1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
|
28102150 |
2017 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
|
28102150 |
2017 |
|
| Entrez Id: |
6334 |
| Gene Symbol: |
SCN8A |
SCN8A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.
|
27779742 |
2017 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
|
28102150 |
2017 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.
|
28202706 |
2017 |
|
| Entrez Id: |
6334 |
| Gene Symbol: |
SCN8A |
SCN8A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.
|
28387369 |
2017 |
|
| Entrez Id: |
2775 |
| Gene Symbol: |
GNAO1 |
GNAO1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
|
28357411 |
2017 |
|
SCN1A-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
|
28102150 |
2017 |
|
SCN1A-AS1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.
|
28202706 |
2017 |
|
| Entrez Id: |
6323 |
| Gene Symbol: |
SCN1A |
SCN1A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
|
29186148 |
2017 |
|
| Entrez Id: |
2775 |
| Gene Symbol: |
GNAO1 |
GNAO1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
|
25966631 |
2016 |
|
| Entrez Id: |
6812 |
| Gene Symbol: |
STXBP1 |
STXBP1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
|
26865513 |
2016 |
|
| Entrez Id: |
2775 |
| Gene Symbol: |
GNAO1 |
GNAO1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation.
|
26060304 |
2016 |
|
| Entrez Id: |
6334 |
| Gene Symbol: |
SCN8A |
SCN8A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
|
26647175 |
2016 |