Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.430 GeneticVariation disease BEFREE GNAO1 is a disease-causing gene for the autosomal dominant form of early infantile epileptic encephalopathy. 26485252 2015
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.430 Biomarker disease CLINGEN GNAO1 is a disease-causing gene for the autosomal dominant form of early infantile epileptic encephalopathy. 26485252 2015
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.010 GeneticVariation disease BEFREE GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. 26645412 2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.200 GeneticVariation disease BEFREE Cyclin-dependent kinase-like 5 (<i>CDKL5</i>) gene mutations have mainly been found in females with early infantile epileptic encephalopathy (EIEE), severe intellectual disability, and Rett-like features. 27599155 2016
Entrez Id: 3192
Gene Symbol: HNRNPU
HNRNPU 		0.010 GeneticVariation disease BEFREE HNRNPU is located within the 1q43-q44 region and mutations in the gene have been reported in patients with early infantile epileptic encephalopathy. 28815871 2017
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.200 Biomarker disease BEFREE Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome. 29217410 2018
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A 		0.010 AlteredExpression disease BEFREE SCN3A, encoding Nav1.3, is known to be highly expressed in brain, but has not previously been linked to early infantile epileptic encephalopathy. 29466837 2018
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.070 GeneticVariation disease BEFREE SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS). 29625812 2018
Entrez Id: 51601
Gene Symbol: LIPT1
LIPT1 		0.010 Biomarker disease BEFREE LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. 29681092 2018
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.430 Biomarker disease BEFREE GNAO1 has been recently identified to be involved in the pathogenesis of early infantile epileptic encephalopathy and movement disorders. 30103967 2018
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.140 Biomarker disease BEFREE SCN8A is a novel causal gene for early infantile epileptic encephalopathy. 31715021 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 GeneticVariation disease CLINVAR A catalog of SCN1A variants. 18804930 2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 CausalMutation disease CLINVAR A catalog of SCN1A variants. 18804930 2009
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 GeneticVariation disease CLINVAR A catalog of SCN1A variants. 18804930 2009
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR A catalog of SCN1A variants. 18804930 2009
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.200 CausalMutation disease CLINVAR A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420 2015
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.700 GeneticVariation disease BEFREE A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). 17668384 2007
Entrez Id: 1759
Gene Symbol: DNM1
DNM1 		0.300 Biomarker disease CLINGEN A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice. 20700442 2010
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 CausalMutation disease CLINVAR A novel approach to assess the ubiquitin-fold modifier 1-system in cells. 27926783 2017
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 CausalMutation disease CLINVAR A novel approach to assess the ubiquitin-fold modifier 1-system in cells. 27926783 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 CausalMutation disease CLINVAR A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298 2015
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 CausalMutation disease CLINVAR A screening test for the prediction of Dravet syndrome before one year of age. 18076640 2008
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR A screening test for the prediction of Dravet syndrome before one year of age. 18076640 2008
Entrez Id: 2066
Gene Symbol: ERBB4
ERBB4 		0.010 GeneticVariation disease BEFREE A yet unresolved issue involves the relationship between early myoclonic encephalopathy (EME-ErbB4 mutations) versus the EIEE spectrum of disorders. 21967765 2012