Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3786
Gene Symbol: KCNQ3
KCNQ3
0.010 GeneticVariation disease BEFREE Heterozygous inherited mutations in their principle subunits K<sub>v</sub> 7.2/KCNQ2 and K<sub>v</sub> 7.3/KCNQ3 cause benign familial neonatal epilepsy whereas patients with de novo heterozygous K<sub>v</sub> 7.2 mutations are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders characterized by intellectual disability, developmental delay and autism. 31283873 2020
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
0.010 GeneticVariation disease BEFREE Variants in RARS1 impair ArgRS activity and do not only lead to a classic hypomyelination presentation with nystagmus and spasticity, but to a wide spectrum, ranging from severe, early-onset epileptic encephalopathy with brain atrophy to mild disease with relatively preserved myelination. 31814314 2020
Entrez Id: 7360
Gene Symbol: UGP2
UGP2
0.010 Biomarker disease BEFREE Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 31820119 2020
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.010 Biomarker disease BEFREE Previous adrenocorticotropic hormone (ACTH) use due to epileptic encephalopathy and presence of constipation at baseline or during KD treatment were found the predictors of treatment efficacy. 30497921 2019
Entrez Id: 54805
Gene Symbol: CNNM2
CNNM2
0.010 GeneticVariation disease BEFREE Here, we report the second homozygous CNNM2 mutation (c.1642G > A,p.Val548Met) in a Moroccan patient, presenting with hypomagnesemia and severe epileptic encephalopathy. 30026055 2019
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1
0.010 GeneticVariation disease BEFREE These are the first reported cases of Developmental and Epileptic Encephalopathy due to KCNC1 mutation. 31353855 2019
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
0.010 GeneticVariation disease BEFREE We hereby report on a young child followed-up for three years who presents with a spectrum of clinical manifestations such as congenital microcephaly, dysmorphic features, severe intellectual disability, and drug-resistant epileptic encephalopathy in association with a synonymous variant in PRRT2 gene (c.501C > T; p.Thr167Ile) of unknown clinical significance variant (VUS) revealed by diagnostic exome sequencing. 31801583 2019
Entrez Id: 2903
Gene Symbol: GRIN2A
GRIN2A
0.010 GeneticVariation disease BEFREE Two unrelated individuals with epileptic encephalopathy carry a de novo variant in the gene encoding the GluN2A NMDA receptor subunit: a N615K missense variant in the M2 pore helix (GRIN2A<sup>C1845A</sup> ). 30604514 2019
Entrez Id: 1454
Gene Symbol: CSNK1E
CSNK1E
0.010 GeneticVariation disease BEFREE A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy. 30488659 2019
Entrez Id: 9098
Gene Symbol: USP6
USP6
0.010 GeneticVariation disease BEFREE Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures) to non-syndromic hearing loss. 30335140 2019
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
0.010 Biomarker disease BEFREE GNB5 developmental and epileptic encephalopathy is characterized by epileptic spasms, focal seizures, and profound impairment. 31631344 2019
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
0.010 GeneticVariation disease BEFREE De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. 30166628 2019
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.010 Biomarker disease BEFREE In this article, we will discuss some innovative approaches, such as P-glycoprotein (P-gp) inhibitors, gene therapy, stem cell therapy, traditional and novel antiepileptic devices, precision medicine, as well as therapeutic advances in epileptic encephalopathy in children; these treatment modalities open up new horizons for the treatment of patients with drug-resistant epilepsy. 31284159 2019
Entrez Id: 57532
Gene Symbol: NUFIP2
NUFIP2
0.010 GeneticVariation disease BEFREE Early diagnosis improving the outcome of an infant with epileptic encephalopathy with cytoplasmic FMRP interacting protein 2 mutation: Case report and literature review. 31689829 2019
Entrez Id: 1173
Gene Symbol: AP2M1
AP2M1
0.010 GeneticVariation disease BEFREE A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 31104773 2019
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
0.010 GeneticVariation disease BEFREE A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy. 31369919 2019
Entrez Id: 54463
Gene Symbol: RETREG1
RETREG1
0.010 GeneticVariation disease BEFREE Assessment of the variants detected by mapped sequencing reads followed by Sanger confirmation revealed that the proband is a compound heterozygote for rare variants within RETREG1 (FAM134B), a gene associated with a recessive form of hereditary sensory and autonomic neuropathy, but not with epileptic encephalopathy or global developmental delay. 31475481 2019
Entrez Id: 2555
Gene Symbol: GABRA2
GABRA2
0.010 GeneticVariation disease BEFREE A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder. 29422393 2018
Entrez Id: 56947
Gene Symbol: MFF
MFF
0.010 GeneticVariation disease BEFREE We confirm that <i>MFF</i> mutations are associated with epileptic encephalopathy with Leigh-like MRI pattern. 30581454 2018
Entrez Id: 94005
Gene Symbol: PIGS
PIGS
0.010 GeneticVariation disease BEFREE Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. 30269814 2018
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A
0.010 GeneticVariation disease BEFREE Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. 28589569 2018
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
0.010 Biomarker disease BEFREE Thus far, CACNA1C has not been reported as a gene associated with epileptic encephalopathy and is less commonly associated with epilepsy. 30513141 2018
Entrez Id: 57187
Gene Symbol: THOC2
THOC2
0.010 GeneticVariation disease BEFREE We present detailed clinical assessment and functional studies on a de novo variant in a female with an epileptic encephalopathy and discuss an additional four families with rare variants in THOC2 with supportive evidence for pathogenicity. 29851191 2018
Entrez Id: 144165
Gene Symbol: PRICKLE1
PRICKLE1
0.010 Biomarker disease BEFREE PRICKLE1-related early onset epileptic encephalopathy. 30345727 2018
Entrez Id: 57572
Gene Symbol: DOCK6
DOCK6
0.010 GeneticVariation disease BEFREE Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. 29631299 2018