Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype BEFREE We report the case of an infant with KCNQ2-related neonatal epileptic encephalopathy presenting with intractable seizures beginning on the second day of life, which were resistant to multiple antiepileptic drugs. 28832002 2018
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 GeneticVariation phenotype BEFREE In boys with early onset of seizures and poor development with absent or poor eye contact, CDKL5 gene-related EIEE can be suspected and epilepsy-associated genes should be analyzed for early etiological diagnosis. 27599155 2017
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 Biomarker phenotype CTD_human This study provides Class IV evidence that EZO is effective for refractory seizures in patients with epilepsy due to KCNQ2 encephalopathy. 27602407 2016
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.500 GeneticVariation phenotype BEFREE Two cases without SLC2A1 mutations were seizure-free at every follow-up point recorded. 25914049 2016
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Eating seizures were also reported in rare patients with MECP2 duplication or mutation. 26875109 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 Biomarker phenotype CTD_human For variants causing KCNQ2 channel loss of function, EZO appeared well tolerated and potentially beneficial against refractory seizures when started early. 27602407 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype BEFREE A novel and rare mutation was identified in KCNQ2 and was likely responsible for the benign seizures segregating in the family though additional evidence would be required to be definitive. 25046240 2016
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
0.500 Biomarker phenotype BEFREE We found that JIP3 was markedly increased in TLE patients and a mouse model of epileptic seizures; mice underexpressing JIP3 through lentivirus bearing LV-Letm1-RNAi showed decreased susceptibility, delayed first seizure and decreased seizure duration response to the epileptogenic properties of KA. 26002316 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype BEFREE Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations. 26910900 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 CausalMutation phenotype CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
0.500 Biomarker phenotype BEFREE Behavioral study revealed that inhibition of Letm1 caused early onset of the first seizure, increased seizure frequency, and duration. 23645710 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.500 GeneticVariation phenotype BEFREE Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia. 25870456 2015
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 CausalMutation phenotype CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.500 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 2015
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 CausalMutation phenotype CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype BEFREE Deletion of KCNQ2 and CHRNA4 does not appear to affect seizure phenotype. 26030193 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype BEFREE Most had KCNQ2 mutations, but two families had SCN2A mutations, which are normally associated with a mixed picture of neonatal and infantile onset seizures. 25982755 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype BEFREE In addition to benign familial neonatal epilepsy (BFNE), KCNQ2 mutations have been recently found in families with one or more family members with a severe outcome, including drug-resistant seizures with psychomotor retardation, electroencephalogram (EEG) suppression-burst pattern (Ohtahara syndrome), and distinct neuroradiological features, a condition that was named "KCNQ2 encephalopathy. 24375629 2014
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
0.500 GeneticVariation phenotype BEFREE An additional chromosome region for seizures is suggested, falling within the terminal 1.5 Mb on 4p, not including LETM1. 24738919 2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 GeneticVariation phenotype BEFREE Mutations in cyclin-dependent kinase like 5 (CDKL5) and FoxG1 genes have been identified in the early onset seizure and the congenital variants respectively. 23622176 2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.500 GeneticVariation phenotype BEFREE The common features of all female patients with CDKL5 gene mutations included refractory seizures starting before 4 months of age, severe psychomotor retardation, Rett-like features such as hand stereotypies, deceleration of head growth after birth and poor prognosis. 24564546 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
0.500 GeneticVariation phenotype BEFREE Here, we set out to determine the disease mechanism of 7 de novo missense KCNQ2 mutations that were recently described in patients with a severe epileptic encephalopathy including pharmacoresistant seizures and pronounced intellectual disability. 24318194 2014
Entrez Id: 3954
Gene Symbol: LETM1
LETM1
0.500 Biomarker phenotype BEFREE Haploinsufficiency of LETM1, which encodes a mitochondrial inner-membrane protein functioning in ion transport, has been proposed as an underlying pathomechanism, principally for seizures but also for other core features of WHS, including growth and motor delay. 24626991 2014