Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.710 GeneticVariation disease BEFREE While heterozygous variants in SCN1B have been described in families with generalized epilepsy with febrile seizures plus, Type 1, only three cases of homozygous, missense variants in SCN1B have been reported in association with autosomal recessive inheritance of a severe developmental and epileptic encephalopathy. 31465153 2019
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.710 Biomarker disease GENOMICS_ENGLAND Genetics of Brugada syndrome. 27761167 2016
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.710 GeneticVariation disease UNIPROT New mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures. 21040232 2011
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.710 Biomarker disease GENOMICS_ENGLAND Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. 18464934 2008
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.710 GeneticVariation disease UNIPROT Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant. 17928445 2007
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.710 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.710 GeneticVariation disease UNIPROT Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 9697698 1998
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.710 Biomarker disease GENOMICS_ENGLAND Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 9697698 1998
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.710 GeneticVariation disease CLINVAR
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.710 CausalMutation disease CLINVAR
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 		0.710 Biomarker disease CTD_human