Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6529
Gene Symbol: SLC6A1
SLC6A1 		0.400 GermlineCausalMutation disease ORPHANET Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. 25865495 2015
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		0.400 GermlineCausalMutation disease ORPHANET Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 1106
Gene Symbol: CHD2
CHD2 		0.400 Biomarker disease HPO
Entrez Id: 6529
Gene Symbol: SLC6A1
SLC6A1 		0.400 Biomarker disease HPO
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.320 GeneticVariation disease BEFREE Mutations in SCN1A gene, encoding the voltage-gated sodium channel α1-subunit, are found to be associated with severe myoclonic epilepsy in infancy or Dravet syndrome (DS), but only rarely with the myoclonic astatic epilepsy (MAE, or Doose syndrome). 21396429 2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.320 Biomarker disease CTD_human Therapy for hyperthermia-induced seizures in Scn1a mutant rats. 21480876 2011
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A 		0.320 GeneticVariation disease BEFREE SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. 15944908 2005
Entrez Id: 1173
Gene Symbol: AP2M1
AP2M1 		0.300 GermlineCausalMutation disease ORPHANET A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 31104773 2019
Entrez Id: 9693
Gene Symbol: RAPGEF2
RAPGEF2 		0.300 Biomarker disease CTD_human Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. 29507423 2018
Entrez Id: 27327
Gene Symbol: TNRC6A
TNRC6A 		0.300 Biomarker disease CTD_human Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. 29507423 2018
Entrez Id: 401474
Gene Symbol: SAMD12
SAMD12 		0.300 Biomarker disease CTD_human Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy. 29507423 2018
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		0.300 Biomarker disease CTD_human De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812 2008
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.300 Biomarker disease CTD_human Myoclonic seizures in a patient with Charcot-Marie-tooth disease. 17275665 2007
Entrez Id: 5443
Gene Symbol: POMC
POMC 		0.300 Therapeutic disease CTD_human Cardiac hypertrophy secondary to ACTH treatment in children. 6088243 1984
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		0.300 Biomarker disease CTD_human
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.020 GeneticVariation disease BEFREE Recently, dominant SLC2A1 mutations were found in rare autosomal dominant families with various forms of epilepsy including early onset absence epilepsy (EOAE), myoclonic astatic epilepsy (MAE), and genetic generalized epilepsy (GGE). 26537434 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.020 Biomarker disease BEFREE To determine if a significant proportion of patients with myoclonic-astatic epilepsy (MAE) have glucose transporter 1 (GLUT1) deficiency. 21555602 2011
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.010 Biomarker disease BEFREE Adrenocorticotrophic hormone therapy resolved the truncal ataxia and myoclonic atonic seizures, along with the decreased serum anti-C-terminal GluN2B and anti-N-terminal GluD2 antibodies, and CSF anti-N-terminal GluN2B and anti-C-terminal anti-GluD2 antibodies. 28246062 2017
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2 		0.010 GeneticVariation disease BEFREE New SMARCA2 mutation in a patient with Nicolaides-Baraitser syndrome and myoclonic astatic epilepsy. 27665729 2017
Entrez Id: 112755
Gene Symbol: STX1B
STX1B 		0.010 GeneticVariation disease BEFREE Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. 26818399 2016
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2 		0.010 GeneticVariation disease BEFREE To investigate the involvement of CLCN2 in another independent sample, we screened 52 unrelated patients from IGE families and 23 patients with Doose syndrome for mutations in CLCN2. 19191339 2009