Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 GeneticVariation phenotype BEFREE Future research should focus on subpopulations of focal epilepsy with lower age of seizure onset particularly with co-existent movement disorders in which GLUT1 mutations may play a more important role. 28419980 2017
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 GeneticVariation phenotype BEFREE Glucose transporter type 1 deficiency syndrome (Glut-1DS) is caused by autosomal dominant haplodeficiency or autosomal recessive with homozygous mutation of the glucose transporter 1 (SLC2A1) gene and is characterized by severe seizures, developmental delay, ataxia and acquired microcephaly. 22814174 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 GeneticVariation phenotype BEFREE A part from this classic phenotype, clinical conditions associated with a deficiency of GLUT1 are highly variable and several atypical variants have been described; in particular, patients with movement disorders, but without seizures, with paroxysmal exertion-induced dyskinesia, have been reported. 21962875 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 GeneticVariation phenotype BEFREE Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia. 25870456 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 GeneticVariation phenotype BEFREE An infant with pseudohyperkalemia, hemolysis, and seizures: cation-leaky GLUT1-deficiency syndrome due to a SLC2A1 mutation. 22492876 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 GeneticVariation phenotype BEFREE Our purpose is (1) to describe epilepsy phenotypes in a large Glut 1 DS cohort, to facilitate diagnosis; and (2) to describe cases in which non-KD agents achieved seizure freedom (SF), highlighting potential adjunctive treatments. 22812641 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 GeneticVariation phenotype BEFREE Two cases without SLC2A1 mutations were seizure-free at every follow-up point recorded. 25914049 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 GeneticVariation phenotype BEFREE Our study underscores that focal epilepsy can be caused by SLC2A1 mutations or that focal seizures may present the main type of seizures. 25022942 2014
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.700 GeneticVariation phenotype CLINVAR
Entrez Id: 6904
Gene Symbol: TBCD
TBCD
0.610 GeneticVariation phenotype BEFREE The biallelic pathogenic variants of TBCD gene were reported to be associated with severe degenerative encephalopathy accompanied with seizures previously. 31240573 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Electroencephalographic (EEG) and seizure types occurring in MECP2 DS have been poorly investigated. 30642617 2019
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype BEFREE Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures. 28602030 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype BEFREE Adult Kcnq2(A306T/+) and Kcnq3(G311V/+) heterozygous knock-in mice exhibited reduced thresholds to electrically induced seizures compared to wild-type littermate mice. 18483067 2008
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 GeneticVariation phenotype BEFREE Mutations in the CDKL5 gene have been associated with the early-onset seizure variant of Rett syndrome and mutations in FOXG1 have been associated with the congenital Rett syndrome variant. 22968132 2013
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 GeneticVariation phenotype BEFREE In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free. 27062609 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype BEFREE In seven patients with BNFCs and no recurrence of seizures, a novel two-base-pair deletion (1369del2) was identified within the coding sequence of the KCNQ2 gene. 15030501 2004
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype LHGDN In seven patients with BNFCs and no recurrence of seizures, a novel two-base-pair deletion (1369del2) was identified within the coding sequence of the KCNQ2 gene. 15030501 2004
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype BEFREE Based on seizure frequency at onset and cognitive outcome, we delineated 3 clinical subgroups, expanding the spectrum of KCNQ2 encephalopathy to patients with moderate intellectual disability and/or infrequent seizures at onset. 24107868 2013
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 GeneticVariation phenotype BEFREE Epilepsy with mutation of the CDKL5 gene causes early seizures and is a variant of Rett syndrome (MIM (312750), which is reported typically as infantile spasms. 16326141 2006
Entrez Id: 627
Gene Symbol: BDNF
BDNF
0.500 GeneticVariation phenotype BEFREE Individuals with the p.R168X mutation and heterozygous for the BDNF polymorphism were also at an increased risk of seizure onset (hazard ratio 5.3, 95% confidence interval 1.6-17.7) compared with those homozygous for the wild-type BDNF allele. 19349604 2009
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.500 GeneticVariation phenotype BEFREE Evidence from experimental research shows that encephalopathy in TSC might have a genetic cause, and mTOR activation caused by TSC gene mutation can be directly responsible for the early appearance of seizures and encephalopathy. 26758984 2016
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 GeneticVariation phenotype BEFREE Our results show that CDKL5 is responsible for a rare variant of Rett syndrome characterised by early development of convulsions, usually of the spasm type. 15689447 2005
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.500 GeneticVariation phenotype BEFREE The results showed that patients with TSC2 mutations had a higher frequency of mental retardation and there were no significant differences of seizures and skin lesions with TSC1 mutations. 29740858 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype CLINVAR Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 22926866 2012
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 GeneticVariation phenotype BEFREE This study describes three boys carrying CDKL5 missense mutations and their detailed clinical and EEG data, and indicates that CDKL5 gene mutations may represent a cause of severe or profound mental retardation and early-onset intractable seizures, also in boys. 18809835 2008