Condition: Early Infantile Epileptic Encephalopathy 6


rs121917922 in LOC102724058;SCN1A-AS1;SCN1A gene and Early Infantile Epileptic Encephalopathy 6 PMID 19563458 2010 Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

PMID 15087100 2004 Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

PMID 12821740 2003 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

PMID 16122630 2005 A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 12566275 2003 Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

PMID 12754708 2003 De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

PMID 26096185 2015 "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 22092154 2012 Acute encephalopathy in children with Dravet syndrome.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 20431604 2010 Analysis of SCN1A mutation and parental origin in patients with 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).

PMID 20522430 2010 Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

PMID 14672992 2003 Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

PMID 14738421 2004 Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

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 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

PMID 16210358 2005 Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

rs1131691581 in LOC102724058;SCN1A;SCN1A-AS1 gene and Early Infantile Epileptic Encephalopathy 6 PMID 19563458 2010 Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

PMID 20522430 2010 Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 12821740 2003 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

PMID 14738421 2004 Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

PMID 15087100 2004 Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

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 12566275 2003 Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

PMID 14672992 2003 Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

PMID 16122630 2005 A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

PMID 12754708 2003 De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 22092154 2012 Acute encephalopathy in children with Dravet syndrome.

PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 20431604 2010 Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 26096185 2015 "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."

PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

PMID 16210358 2005 Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

PMID 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

PMID 17054684 2006 Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

rs121917914 in SCN1A-AS1;LOC102724058;SCN1A gene and Early Infantile Epileptic Encephalopathy 6 PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

PMID 20522430 2010 Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 22092154 2012 Acute encephalopathy in children with Dravet syndrome.

PMID 20431604 2010 Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 15087100 2004 Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

PMID 16122630 2005 A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

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 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 14738421 2004 Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

PMID 19563458 2010 Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

PMID 12821740 2003 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

PMID 12754708 2003 De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

PMID 12566275 2003 Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

PMID 14672992 2003 Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

PMID 26096185 2015 "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."

PMID 16210358 2005 Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

PMID 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

PMID 11940708 2002 Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.

PMID 17054684 2006 Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

PMID 22071555 2012 Early clinical features in Dravet syndrome patients with and without SCN1A mutations.

rs1057523858 in SCN1A-AS1;SCN1A gene and Early Infantile Epileptic Encephalopathy 6 PMID 22092154 2012 Acute encephalopathy in children with 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).

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

PMID 19563458 2010 Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

PMID 20522430 2010 Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

PMID 20431604 2010 Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

PMID 15087100 2004 Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

PMID 14738421 2004 Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 12566275 2003 Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

PMID 16122630 2005 A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

PMID 14672992 2003 Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

PMID 12821740 2003 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

PMID 12754708 2003 De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 16210358 2005 Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

PMID 17054685 2006 Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

PMID 22612257 2012 Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PMID 17561957 2007 Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

PMID 21703448 2011 Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.

PMID 24168886 2014 Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations.

PMID 22780858 2012 Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.

PMID 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

PMID 26096185 2015 "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."

PMID 22150645 2012 Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations.

PMID 20879882 2010 Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

PMID 11359211 2001 De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

PMID 19589774 2010 De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.

PMID 23884151 2013 The SCN1A gene variants and epileptic encephalopathies.

PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

PMID 20491869 2010 Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.

PMID 17054684 2006 Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

PMID 22409937 2012 Progressive gait deterioration in adolescents with Dravet syndrome.

PMID 16458823 2006 Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.

PMID 22151702 2012 Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.

PMID 23808377 2013 Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.

rs121917908 in SCN1A-AS1;SCN1A;LOC102724058 gene and Early Infantile Epileptic Encephalopathy 6 PMID 20522430 2010 Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 20431604 2010 Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

PMID 14738421 2004 Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

PMID 12821740 2003 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 16122630 2005 A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

PMID 22092154 2012 Acute encephalopathy in children with Dravet syndrome.

PMID 15087100 2004 Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

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 19563458 2010 Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 12566275 2003 Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

PMID 14672992 2003 Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 12754708 2003 De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

PMID 26096185 2015 "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."

PMID 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

PMID 16210358 2005 Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

rs121917911 in SCN1A;LOC102724058;SCN1A-AS1 gene and Early Infantile Epileptic Encephalopathy 6 PMID 14672992 2003 Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

PMID 12566275 2003 Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

PMID 20522430 2010 Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 14738421 2004 Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

PMID 12821740 2003 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

PMID 12754708 2003 De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

PMID 22092154 2012 Acute encephalopathy in children with Dravet syndrome.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 15087100 2004 Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

PMID 19563458 2010 Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

PMID 16122630 2005 A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

PMID 20431604 2010 Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

PMID 28544625 2017 A mutation in GABRB3 associated with 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).

PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

PMID 26096185 2015 "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."

PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

PMID 16210358 2005 Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

PMID 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

PMID 23086956 2012 Nontruncating SCN1A mutations associated with severe myoclonic epilepsy of infancy impair cell surface expression.

PMID 12083760 2002 Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

PMID 15263074 2004 Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy.

PMID 21425109 2011 [Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus].

rs1057519530 in SCN1A;SCN1A-AS1 gene and Early Infantile Epileptic Encephalopathy 6 PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 22092154 2012 Acute encephalopathy in children with Dravet syndrome.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 20522430 2010 Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 14672992 2003 Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

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 14738421 2004 Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

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 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 16122630 2005 A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

PMID 15087100 2004 Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

PMID 12821740 2003 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

PMID 12566275 2003 Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

PMID 20431604 2010 Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

PMID 12754708 2003 De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

PMID 19563458 2010 Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

PMID 16210358 2005 Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

PMID 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

PMID 26096185 2015 "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."

PMID 17166794 2007 Epilepsy: clinical observations and novel mechanisms.

PMID 16713920 2006 De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

PMID 15277629 2004 Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity.

PMID 16713913 2006 Demystifying vaccination-associated encephalopathy.

PMID 15508916 2005 Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort.

PMID 21371021 2011 Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene.

PMID 20550552 2010 Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.

PMID 19589774 2010 De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.

PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

PMID 21719429 2011 Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.

PMID 22780858 2012 Dravet syndrome: seizure control and gait in adults with different SCN1A mutations.

PMID 17054684 2006 Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.

rs1057519533 in SCN1A;SCN1A-AS1;LOC102724058 gene and Early Infantile Epileptic Encephalopathy 6 PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

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 22092154 2012 Acute encephalopathy in children with Dravet syndrome.

PMID 21864321 2011 Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

PMID 14672992 2003 Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 15087100 2004 Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 20522430 2010 Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

PMID 16122630 2005 A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

PMID 19563458 2010 Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.

PMID 17347258 2007 The spectrum of SCN1A-related infantile epileptic encephalopathies.

PMID 28544625 2017 A mutation in GABRB3 associated with Dravet syndrome.

PMID 25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PMID 12821740 2003 Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.

PMID 14738421 2004 Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).

PMID 19522081 2009 Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

PMID 20431604 2010 Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome.

PMID 12566275 2003 Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

PMID 12754708 2003 De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

PMID 23195492 2012 Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.

PMID 17507202 2007 Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.

PMID 16210358 2005 Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

PMID 26096185 2015 "Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of ""de novo"" SCN1A Mutations in Children with Dravet Syndrome."

PMID 18930999 2009 Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

PMID 19673951 2009 Parental SCN1A mutation mosaicism in familial Dravet syndrome.

PMID 21248271 2011 Genotype-phenotype associations in SCN1A-related epilepsies.

PMID 22409937 2012 Progressive gait deterioration in adolescents with Dravet syndrome.