Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5602
Gene Symbol: MAPK10
MAPK10 		0.500 GeneticVariation disease ORPHANET Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy. 16249883 2006
Entrez Id: 5602
Gene Symbol: MAPK10
MAPK10 		0.500 Biomarker disease GENOMICS_ENGLAND Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients. 23329067 2013
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.340 GermlineCausalMutation disease ORPHANET De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. 27476654 2016
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.340 GeneticVariation disease BEFREE Mutations in GABRB3 have been increasingly recognized as a major cause for severe paediatric epilepsy syndromes such as Lennox-Gastaut syndrome, Dravet syndrome and infantile spasms with intellectual disability as well as relatively mild epilepsy syndromes such as childhood absence epilepsy. 31435640 2019
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.340 GeneticVariation disease BEFREE To screen a library of potential therapeutic compounds for a woman with Lennox-Gastaut syndrome due to a Y302C GABRB3 (c.905A>G) mutation. 31755996 2019
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.340 Biomarker disease BEFREE Recently, mutations of GABRA1, GABRB2, and GABRB3 were associated with infantile spasms and Lennox-Gastaut syndrome. 25194483 2014
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.340 GermlineCausalMutation disease ORPHANET De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3 		0.340 GeneticVariation disease BEFREE Recently, GABRB3 mutations have been identified in a few patients with infantile spasms and Lennox-Gastaut syndrome. 26645412 2016
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.320 Biomarker disease BEFREE Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. 28186331 2017
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		0.320 GeneticVariation disease BEFREE Only one CHD2 mutation was detected in patients with Lennox-Gastaut syndrome. 29314583 2018
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		0.320 GermlineCausalMutation disease ORPHANET Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.320 GermlineCausalMutation disease ORPHANET This finding emphasizes the significance of SCN1A mutations also in epileptic disorders with features of LGS, particularly in the myoclonic variant of the disorder. 19782004 2009
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.320 GermlineCausalMutation disease ORPHANET The spectrum of SCN1A-related infantile epileptic encephalopathies. 17347258 2007
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.320 GeneticVariation disease BEFREE This finding emphasizes the significance of SCN1A mutations also in epileptic disorders with features of LGS, particularly in the myoclonic variant of the disorder. 19782004 2009
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		0.320 GeneticVariation disease BEFREE Our findings suggest that CHD2 mutations are important in the etiological spectrum of LGS. 24614520 2014
Entrez Id: 1759
Gene Symbol: DNM1
DNM1 		0.300 GermlineCausalMutation disease ORPHANET Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
Entrez Id: 1759
Gene Symbol: DNM1
DNM1 		0.300 GermlineCausalMutation disease ORPHANET De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. 25262651 2014
Entrez Id: 23316
Gene Symbol: CUX2
CUX2 		0.300 GermlineCausalMutation disease ORPHANET The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. 29630738 2018
Entrez Id: 8527
Gene Symbol: DGKD
DGKD 		0.200 Biomarker disease MGD Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice. 17357084 2007
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		0.020 GeneticVariation disease BEFREE In addition, we observed unusually less involvement of perisylvian cortex for polymicrogyria, and Lennox-Gastaut syndrome for epilepsy, which are likely common features in patients with BFPP caused by GPR56 mutations. 23981349 2014
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		0.020 GeneticVariation disease BEFREE We report three consanguineous families in which four affected individuals with BFPP and GPR56 mutations had Lennox-Gastaut syndrome. 19016831 2009
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2 		0.010 GeneticVariation disease BEFREE Recently, mutations of GABRA1, GABRB2, and GABRB3 were associated with infantile spasms and Lennox-Gastaut syndrome. 25194483 2014
Entrez Id: 1641
Gene Symbol: DCX
DCX 		0.010 GeneticVariation disease BEFREE Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria. 20726879 2010
Entrez Id: 51557
Gene Symbol: LGSN
LGSN 		0.010 GeneticVariation disease BEFREE The GABRD 659 G > A polymorphism may play an important role in the susceptibility of JME and LGS and this polymorphism may also increase the duration of postictal period in JME patients but may decrease the duration of seizure in LGS patients. 29785705 2018
Entrez Id: 10565
Gene Symbol: ARFGEF1
ARFGEF1 		0.010 Biomarker disease BEFREE To model ARFGEF1 haploinsufficiency observed in a recent Lennox Gastaut Syndrome patient, we studied a frameshift mutation (Arfgef1<sup>fs</sup>) in mice. 31678406 2020