Condition: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
rs121918805 in
LOC102724058;SCN1A-AS1;SCN1A gene and
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
PMID 11524484 2001 Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
PMID 20600615 2010 Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
PMID 12919402 2003 Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
PMID 11756608 2001 Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
PMID 11254445 2001 A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
PMID 19339291 2009 A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
PMID 20729507 2010 Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
PMID 20117752 2010 Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
PMID 15525788 2004 A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
PMID 17928445 2007 Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
PMID 17927801 2008 Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.
PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
PMID 15715999 2005 A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
PMID 12576172 2003 Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).
PMID 19464195 2009 Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
PMID 15087100 2004 Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.
rs121917910 in
LOC102724058;SCN1A;SCN1A-AS1 gene and
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
PMID 16326807 2005 Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.
PMID 12576172 2003 Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).
PMID 15525788 2004 A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.
PMID 12919402 2003 Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
PMID 11756608 2001 Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
PMID 11524484 2001 Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
PMID 20600615 2010 Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
PMID 17927801 2008 Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
PMID 11254445 2001 A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
PMID 19339291 2009 A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
PMID 17928445 2007 Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
PMID 20117752 2010 Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
PMID 15715999 2005 A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
PMID 20729507 2010 Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
PMID 19464195 2009 Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
PMID 16713920 2006 De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.
PMID 20831750 2010 Sodium channel SCN1A and epilepsy: mutations and mechanisms.
rs121917932 in
SCN1A-AS1;LOC102724058;SCN1A gene and
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
PMID 19339291 2009 A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
PMID 19464195 2009 Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
PMID 20117752 2010 Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
PMID 17928445 2007 Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
PMID 11254445 2001 A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
PMID 12576172 2003 Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).
PMID 11524484 2001 Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
PMID 15715999 2005 A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
PMID 12919402 2003 Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
PMID 11756608 2001 Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
PMID 15525788 2004 A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.
PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
PMID 20729507 2010 Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
PMID 17927801 2008 Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
PMID 20600615 2010 Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
rs121917906 in
SCN1A-AS1;SCN1A gene and
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
PMID 19464195 2009 Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
PMID 17927801 2008 Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
PMID 19339291 2009 A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
PMID 17928445 2007 Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
PMID 20600615 2010 Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
PMID 15715999 2005 A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.
PMID 20729507 2010 Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
PMID 20117752 2010 Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
PMID 15525788 2004 A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
PMID 11254445 2001 A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
PMID 11524484 2001 Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
PMID 11756608 2001 Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
PMID 12919402 2003 Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
PMID 12576172 2003 Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).
PMID 16326807 2005 Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.
PMID 16541393 2006 Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
rs121917954 in
SCN1A-AS1;SCN1A;LOC102724058 gene and
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
PMID 11524484 2001 Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
PMID 11756608 2001 Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
PMID 15525788 2004 A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
PMID 12576172 2003 Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).
PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
PMID 15715999 2005 A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
PMID 11254445 2001 A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.
PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
PMID 12919402 2003 Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
PMID 19464195 2009 Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
PMID 17927801 2008 Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
PMID 20600615 2010 Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
PMID 19339291 2009 A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
PMID 17928445 2007 Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
PMID 20729507 2010 Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
PMID 20117752 2010 Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
rs121918744 in
SCN1A;LOC102724058;SCN1A-AS1 gene and
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
PMID 20117752 2010 Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
PMID 20600615 2010 Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
PMID 19339291 2009 A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
PMID 17928445 2007 Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
PMID 15715999 2005 A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
PMID 12919402 2003 Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.
PMID 17927801 2008 Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
PMID 19464195 2009 Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
PMID 12576172 2003 Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).
PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
PMID 11756608 2001 Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
PMID 11254445 2001 A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
PMID 15525788 2004 A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
PMID 11524484 2001 Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
PMID 20729507 2010 Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
rs121917931 in
SCN1A;SCN1A-AS1 gene and
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
PMID 19464195 2009 Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
PMID 20117752 2010 Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
PMID 20729507 2010 Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
PMID 20600615 2010 Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
PMID 19339291 2009 A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
PMID 15525788 2004 A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
PMID 11254445 2001 A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
PMID 11524484 2001 Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
PMID 12919402 2003 Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
PMID 11756608 2001 Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.
PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
PMID 17928445 2007 Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
PMID 12576172 2003 Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).
PMID 15715999 2005 A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
PMID 17927801 2008 Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
PMID 22848613 2012 Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
rs121918801 in
SCN1A;SCN1A-AS1;LOC102724058 gene and
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
PMID 20729507 2010 Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).
PMID 20600615 2010 Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
PMID 19339291 2009 A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
PMID 20117752 2010 Generalized epilepsy with febrile seizures plus: novel SCN1A mutation.
PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.
PMID 17927801 2008 Genetic screening of Scandinavian families with febrile seizures and epilepsy or GEFS+.
PMID 15525788 2004 A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.
PMID 19464195 2009 Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A.
PMID 18413471 2008 Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.
PMID 11524484 2001 Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures.
PMID 10742094 2000 Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
PMID 17928445 2007 Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant.
PMID 11756608 2001 Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.
PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
PMID 15715999 2005 A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.
PMID 12919402 2003 Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.
PMID 11254445 2001 A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy.
PMID 12576172 2003 Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).