Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 CausalMutation disease CLINVAR De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 12754708 2003
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. 12754708 2003
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.150 CausalMutation disease CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157 2003
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 CausalMutation disease CLINVAR Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). 14738421 2004
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). 14738421 2004
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.700 GeneticVariation disease BEFREE Mutations in the Aristaless-related homeobox gene (ARX) have been recognized as a cause of X-linked infantile spasms and sporadic cryptogenic infantile spasms. 15021241 2004
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.200 Biomarker disease BEFREE The serine-threonine kinase 9 gene (STK9) was identified as the second gene associated with X-linked infantile spasms. 15021241 2004
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.150 CausalMutation disease CLINVAR Neonatal seizures with tonic clonic sequences and poor developmental outcome. 16039833 2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 GeneticVariation disease CLINVAR Sodium channel mutations in epilepsy and other neurological disorders. 16075041 2005
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 GeneticVariation disease CLINVAR Sodium channel mutations in epilepsy and other neurological disorders. 16075041 2005
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 CausalMutation disease CLINVAR Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. 16541393 2006
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. 16541393 2006
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.150 CausalMutation disease CLINVAR Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy. 16916607 2006
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.200 GeneticVariation disease BEFREE Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the common features of generally intractable early seizures and mental retardation. 16935860 2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 CausalMutation disease CLINVAR Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 17054684 2006
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 17054684 2006
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 GeneticVariation disease CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.420 CausalMutation disease CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 CausalMutation disease CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1 		0.100 GeneticVariation disease CLINVAR The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.700 GeneticVariation disease BEFREE Mutations in the ARX gene have been found in X-linked infantile spasms syndrome, Partington syndrome (mental retardation with dystonic movements of the hands), X-linked lissencephaly with abnormal genitalia, X-linked myoclonus epilepsy with spasticity and intellectual disability, and in nonsyndromic X-linked mental retardation. 17641262 2007
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.700 GermlineCausalMutation disease ORPHANET Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. 17664401 2007
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: 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