Disease: Migraine, Familial Hemiplegic, 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN Two novel families with hemiplegic migraine caused by recurrent SCN1A mutation p.F1499L. 29145747 2018
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN Familial Hemiplegic Migraine Type 3 (FHM3) With an SCN1A Mutation in a Chinese Family: A Case Report. 30498473 2018
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine. 30038559 2018
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report. 27919014 2017
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN Early-onset familial hemiplegic migraine due to a novel SCN1A mutation. 26763045 2016
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN Clinical and electroencephalographic abnormalities during the full duration of a sporadic hemiplegic migraine attack. 27155821 2016
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes. 26747084 2016
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN Familial hemiplegic migraine due to L263V SCN1A mutation: discordance for epilepsy between two kindreds from Douro Valley. 24646837 2014
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN Two novel SCN1A mutations identified in families with familial hemiplegic migraine. 24707016 2014
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy. 19220312 2009
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 GeneticVariation disease UNIPROT Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. 19332696 2009
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. 19332696 2009
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease GENOMICS_ENGLAND Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. 19332696 2009
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel. 18632931 2008
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. 18021921 2007
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online. 17397047 2007
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. 17537961 2007
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 GeneticVariation disease UNIPROT The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online. 17397047 2007
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 GeneticVariation disease UNIPROT Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. 18021921 2007
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 GeneticVariation disease UNIPROT Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. 16054936 2005
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CLINGEN Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. 16054936 2005
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. 10742094 2000
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease CTD_human
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
Migraine, Familial Hemiplegic, 3 		0.700 CausalMutation disease CLINVAR