Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation disease BEFREE Pointed rhythmic theta waves: a unique EEG pattern in KCNQ2-related neonatal epileptic encephalopathy. 28832002 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.500 GeneticVariation disease BEFREE Dravet syndrome is a developmental and epileptic encephalopathy that occurs as a result of SCN1A mutations in more than 80% of affected individuals. 28233668 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.500 GeneticVariation disease BEFREE Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy. 28676440 2018
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 GeneticVariation disease BEFREE Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy. 28872899 2018
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.500 GeneticVariation disease BEFREE A novel inherited SCN1A mutation associated with GEFS+ in benign and encephalopathic epilepsy. 28262406 2017
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 Biomarker disease BEFREE CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature. 27599155 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.500 GeneticVariation disease BEFREE SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 28923014 2017
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.500 Biomarker disease BEFREE STXBP1 as a therapeutic target for epileptic encephalopathy. 28971703 2017
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 GeneticVariation disease BEFREE Pathogenic variants involving the CDKL5 gene result in a severe epileptic encephalopathy, often later presenting with features similar to Rett syndrome. 28605011 2017
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.500 Biomarker disease BEFREE STXBP1-E may be conceptualized as a complex neurodevelopmental disorder rather than a primary epileptic encephalopathy. 26865513 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.500 CausalMutation disease CLINVAR SCN8A mutation in a child presenting with seizures and developmental delays. 27900360 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation disease BEFREE A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels. 26007637 2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 GeneticVariation disease BEFREE Mutations in the CDKL5 gene cause an early-onset epileptic encephalopathy. 26387070 2016
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.500 GeneticVariation disease BEFREE Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation. 26212315 2016
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.500 GeneticVariation disease BEFREE De novo mutations of the gene sodium channel 1α (SCN1A) are the major cause of Dravet syndrome, an infantile epileptic encephalopathy. 26438699 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.500 GeneticVariation disease BEFREE Mutations in SCN8A, coding for the voltage-gated sodium channel Nav 1.6, have been described in relation to infantile onset epilepsy with developmental delay and cognitive impairment, in particular early onset epileptic encephalopathy (EIEE) type 13. 27210545 2016
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.500 GeneticVariation disease BEFREE Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. 26384463 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.500 GeneticVariation disease BEFREE We described a person with epileptic encephalopathy associated with a mosaic deletion of the SCN8A gene. 26220391 2016
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.500 Biomarker disease BEFREE We identified mutations in CDKL5, SCN2A, SETD5, ALG13, and TBL1XR1 in seven patients with West syndrome, and in SCN1A and GRIN1 in the two patients with unclassified epileptic encephalopathy. 26482601 2016
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.500 GeneticVariation disease BEFREE We present the clinical data of four patients (aged 8-21 years) with childhood-onset neurogenetic disorders, including ataxia-telangiectasia, Coffin-Lowry syndrome and epileptic encephalopathy due to SCN1A mutations. 26232052 2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.500 GeneticVariation disease BEFREE Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. 25239001 2015
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 GeneticVariation disease BEFREE Mutations of the CDKL5 gene cause early epileptic encephalopathy. 24715584 2015
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
0.500 GeneticVariation disease BEFREE Thus, our results confirm that using engineered human embryonic stem (ES) cells is a viable approach to studying disease-associated mutations in human neurons on a controlled genetic background, demonstrate that partial STXBP1 loss of function robustly impairs neurotransmitter release in human neurons, and suggest that heterozygous STXBP1 mutations cause early epileptic encephalopathy specifically through a presynaptic impairment. 26280581 2015