Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 GeneticVariation disease BEFREE KCNT1 mutations have been found in epilepsy of infancy with migrating focal seizures (EIMFS; also known as migrating partial seizures in infancy), autosomal dominant nocturnal frontal lobe epilepsy, and other types of early onset epileptic encephalopathies (EOEEs). 26140313 2015
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 GeneticVariation disease BEFREE We report a case of MPSI with heterozygous missense mutation in KCNT1, which was successfully managed by ketogenic diet. 26785903 2016
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 GeneticVariation disease BEFREE Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries. 28987752 2017
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 GeneticVariation disease BEFREE A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078 2013
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 GeneticVariation disease BEFREE This latter result suggests two genotype-tailored pharmacological strategies to specifically counteract the dysfunction of KCNT1 activating mutations in MMPSI patients. 26784557 2016
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		0.040 GeneticVariation disease BEFREE The results of this study explain the different spectrum of IDUA gene mutations in our patients with MPSI. 31386236 2019
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22 		0.020 GeneticVariation disease BEFREE Mutations in SLC25A22 are known to cause neonatal epileptic encephalopathy and migrating partial seizures in infancy. 28255779 2017
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.010 GeneticVariation disease BEFREE Our data reveal that SCN8A mutations can cause variable phenotypes, most of which can be diagnosed as unclassified EOEEs, and rarely as MMPSI. 24888894 2014
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 Biomarker disease CLINGEN Epilepsy-Related Slack Channel Mutants Lead to Channel Over-Activity by Two Different Mechanisms. 26725113 2016
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 Biomarker disease CLINGEN Formation of intermediate-conductance calcium-activated potassium channels by interaction of Slack and Slo subunits. 10196543 1998
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 Biomarker disease CLINGEN Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. 24309898 2014
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 Biomarker disease CLINGEN Sodium-dependent potassium channels of a Slack-like subtype contribute to the slow afterhyperpolarization in lamprey spinal neurons. 17884929 2007
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 Biomarker disease CLINGEN Coxsackievirus B3-induced acute pancreatitis: analysis of histopathological and viral parameters in a mouse model. 2548562 1989
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 Biomarker disease CLINGEN The sodium-activated potassium channel is encoded by a member of the Slo gene family. 12628167 2003
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 Biomarker disease CLINGEN Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883 2014
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 Biomarker disease CLINGEN Quinidine in the treatment of KCNT1-positive epilepsies. 26369628 2015
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 Biomarker disease CLINGEN Klinefelter syndrome and cancer: from childhood to adulthood. 24079078 2013
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 Biomarker disease CLINGEN KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 24591078 2014
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 Biomarker disease CLINGEN De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397 2012
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 Biomarker disease CLINGEN This latter result suggests two genotype-tailored pharmacological strategies to specifically counteract the dysfunction of KCNT1 activating mutations in MMPSI patients. 26784557 2016
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1 		0.350 Biomarker disease CLINGEN Differential distribution of the sodium-activated potassium channels slick and slack in mouse brain. 26587966 2016
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		0.040 Biomarker disease BEFREE We used the canine MPSI model system to address the efficacy of a new retroviral vector, MND-MFG, containing the human alpha-ID cDNA (MND-MFG-alpha-ID) for direct in utero gene delivery to MPSI cells. 12396614 2002
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		0.040 Biomarker disease BEFREE The HIRMAb domain binds the endogenous insulin receptor on the human BBB to trigger receptor-mediated transport across the BBB, and acts as a molecular Trojan horse to ferry the fused IDUA into the brain of patients with MPSI. 29442294 2018
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		0.040 Biomarker disease BEFREE The work suggests that treatment of MPSI with the HIRMAb-IDUA fusion protein will be as effective as IDUA in peripheral organs, but offer the benefit of treatment of the central nervous system in MPSI. 28279069 2017
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22 		0.020 Biomarker disease BEFREE Our data strongly suggest that SLC25A22 is responsible for MPSI, a severe condition with few known etiologies. 24596948 2013