Disease: Epileptic Syndromes ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE The vast majority of mutations responsible for epilepsy syndromes such as genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS) occur in the gene encoding the type 1 alpha subunit of neuronal voltage-gated sodium channel (SCN1A). 31765958 2020
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE However, predicting the outcome of de novo missense SCN1A mutations is difficult, since milder epileptic syndromes may also be associated. 30735520 2019
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE Dravet syndrome is an intractable childhood epilepsy syndrome most often associated with an SCN1A mutation. 29031192 2017
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE Mutations in the SCN1A gene cause a spectrum of epilepsy syndromes. 28079431 2017
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 Biomarker disease BEFREE Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. 26990884 2016
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 Biomarker disease BEFREE Our goal was to determine whether SCN1A screening is relevant in patients with a broad range of epileptic syndromes. 27045673 2016
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 Biomarker disease BEFREE Therefore, we performed a genome-wide screening for copy number variations (CNVs) in 36 patients with SCN1A-negative fever-associated syndromic epilepsies. 25690317 2015
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE Mutations in the gene encoding the alpha subunit of the voltage-gated sodium channel SCN1A are associated with several epilepsy syndromes. 25795284 2015
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE Mutations in the SCN1A gene have commonly been associated with a wide range of mild to severe epileptic syndromes. 25590135 2015
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE Mutations in the gene encoding the α1 subunit of the voltage gated sodium channel (SCN1A) are associated with several epilepsy syndromes, ranging from relatively mild phenotypes found in families with genetic epilepsy with febrile seizures plus (GEFS+) to the severe infant-onset epilepsy Dravet syndrome. 24836964 2014
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 Biomarker disease BEFREE These findings suggest SCN1A involvement in a common epilepsy syndrome, give new direction to biological understanding of mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures, and open avenues for investigation of prognostic factors and possible prevention of epilepsy in some children with febrile seizures. 24014518 2013
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE Dravet syndrome is a devastating infantile-onset epilepsy syndrome with cognitive deficits and autistic traits caused by genetic alterations in SCN1A gene encoding the α-subunit of the voltage-gated sodium channel Na(v)1.1. 23639079 2013
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE Mutations in the SCN1A gene are associated with a variety of epilepsy syndromes and more recently with familial hemiplegic migraine. 22550089 2013
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE SCN1A mutations are associated with a variety of epilepsy syndromes; the more severe syndromes are associated with truncation or complete loss of function of the protein. 22905747 2012
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE SCN1A gene mutations are linked to multiple epilepsy syndromes with patients frequently presenting with prolonged febrile seizures. 22532537 2012
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE Over 40 missense mutations in the human SCN1A sodium channel gene are linked to an epilepsy syndrome termed genetic epilepsy with febrile seizures plus (GEFS+). 23055484 2012
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 Biomarker disease BEFREE The SCN1A gene is a major gene in different epilepsies and epilepsy syndromes; the HRM could be the new methodology, more rapid and efficacious, for molecular analysis of the SCN1A gene. 21713554 2011
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE Mutations in the SCN1A gene can cause a variety of dominantly inherited epilepsy syndromes. 21775168 2011
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE We propose a unified loss-of-function hypothesis for the spectrum of epilepsy syndromes caused by genetic changes in NaV1.1 channels, in which mild impairment predisposes to febrile seizures, intermediate impairment leads to GEFS+ epilepsy, and severe or complete loss of function leads to the intractable seizures and comorbidities of SMEI. 20194124 2010
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE Dravet syndrome (DS) or severe myoclonic epilepsy of infancy is an intractable epileptic syndrome that is caused by mutations in the neuronal voltage-gated sodium channel alpha1 subunit gene SCN1A. 20431604 2010
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE In particular, the SCN1A gene coding for the pore-forming a-subunit of the voltage-gated sodium channel Na(V)1.1 appears to be a common target for epilepsy syndrome-specific mutations. 19666879 2009
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE Mutations in the NaV1.1 neuronal sodium channel alpha-subunit (SCN1A) gene have been documented in a spectrum of epilepsy syndromes, ranging from the relatively benign generalized epilepsy with febrile seizures plus (GEFS(+)) to severe myoclonic epilepsy in infancy (SMEI), and rare cases of familial migraine. 19469841 2009
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE PubMed was searched for articles and information was extracted on localisation and types of SCN1A missense mutations in patients with benign and severe epileptic syndromes; detailed information was also extracted. 19586930 2009
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 Biomarker disease BEFREE Mutations in the SCN 1 A gene, encoding the neuronal voltage-gated sodium channel alpha1 subunit, cause SMEI, GEFS+, and related epileptic syndromes. 18031552 2008
CUI: C4505072
Disease: Epileptic Syndromes
Epileptic Syndromes 		0.100 GeneticVariation disease BEFREE To search for disease-causing mutations in SCN1A in patients with cryptogenic epileptic syndromes (ie, syndromes with an unknown cause). 18413471 2008