Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mitochondrial medicine in the omics era.
|
29903433 |
2018 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
Biomarker
|
disease |
BEFREE |
The aim of this study has been to understand how munc18-1 haploinsufficiency causes cognitive impairment seen in EIEE-4.
|
29217410 |
2018 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
|
26865513 |
2016 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.
|
27069701 |
2016 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism.
|
25418441 |
2015 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
|
25714420 |
2015 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
|
25714420 |
2015 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
|
26514728 |
2015 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
|
25497044 |
2015 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation.
|
24315539 |
2014 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
The genetic landscape of infantile spasms.
|
24781210 |
2014 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
|
24623842 |
2014 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
|
24189369 |
2014 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
|
24170257 |
2014 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
|
23662938 |
2013 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
|
23662938 |
2013 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
|
23409955 |
2013 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
Epileptic Encephalopathy, Early Infantile, 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |