Gene: KCNQ2

Alternate names for this Gene: BFNC|EBN|EBN1|ENB1|HNSPC|KCNA11|KV7.2

Gene Summary: The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene.

Gene is located in Chromosome: 20

Location in Chromosome : 20q13.33

Description of this Gene: potassium voltage-gated channel subfamily Q member 2

Type of Gene: protein-coding

rs118192212 in KCNQ2 gene and Benign Rolandic Epilepsy PMID 18640800 2009 A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions.

PMID 22884718 2012 KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2.

PMID 18625963 2008 KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.

rs1555850868 in KCNQ2 gene and Dysmorphic features PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

PMID 18238816 2008 Nervous system KV7 disorders: breakdown of a subthreshold brake.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PMID 17872363 2007 Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

PMID 17675531 2007 Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 15608631 2005 Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

PMID 10781098 2000 Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 10323247 1999 Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.

PMID 9430594 1998 A potassium channel mutation in neonatal human epilepsy.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 8327138 1993 Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

PMID 28602030 2017 Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

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

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 27861786 2017 Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

PMID 6965523 1980 Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone.

PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

PMID 29129156 2017 A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs118192213 in KCNQ2 gene and EPILEPSY, BENIGN NEONATAL, 2 PMID 17129708 2007 Benign familial neonatal convulsions: always benign?

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

rs118192197 in KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 PMID 16235065 2005 Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).

rs118192185 in KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 25740509 2015 Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

PMID 23692823 2013 Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

PMID 14534157 2003 KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

PMID 27779742 2017 Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.

PMID 25473036 2014 Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

rs1057516082 in KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 25092550 2015 Myoclonic epilepsy evolved into West syndrome: a patient with a novel de novo KCNQ2 mutation.

PMID 25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

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

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

PMID 25566516 2014 Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

PMID 15249611 2004 A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

PMID 26138355 2016 Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

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

PMID 25740509 2015 Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

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

PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

PMID 27864847 2017 Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 23692823 2013 Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

PMID 24371303 2014 KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

PMID 23291709 2013 A basic residue in the proximal C-terminus is necessary for efficient activation of the M-channel subunit Kv7.2 by PI(4,5)P₂.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 17872363 2007 Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

PMID 23440208 2013 Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.

PMID 18353052 2008 Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion.

PMID 25052858 2014 The variable phenotypes of KCNQ-related epilepsy.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 16039833 2005 Neonatal seizures with tonic clonic sequences and poor developmental outcome.

PMID 12754513 2003 AKAP150 signaling complex promotes suppression of the M-current by muscarinic agonists.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 9430594 1998 A potassium channel mutation in neonatal human epilepsy.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 28687180 2018 A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.

PMID 28133863 2017 Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

rs6062927 in KCNQ2 gene and Malignant neoplasm of esophagus PMID 21642993 2011 Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.

rs1555869758 in KCNQ2 gene and Movement Disorders PMID 28602030 2017 Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

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

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 6965523 1980 Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone.

PMID 9430594 1998 A potassium channel mutation in neonatal human epilepsy.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 15608631 2005 Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

PMID 8327138 1993 Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

PMID 17872363 2007 Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

PMID 29129156 2017 A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

PMID 18238816 2008 Nervous system KV7 disorders: breakdown of a subthreshold brake.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 27861786 2017 Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

PMID 17675531 2007 Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 10781098 2000 Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PMID 10323247 1999 Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.

rs797044938 in KCNQ2 gene and Muscle hypotonia PMID 10781098 2000 Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.

PMID 8327138 1993 Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 6965523 1980 Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone.

PMID 28602030 2017 Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

PMID 27861786 2017 Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 9430594 1998 A potassium channel mutation in neonatal human epilepsy.

PMID 29129156 2017 A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

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

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 10323247 1999 Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 15608631 2005 Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 17675531 2007 Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

PMID 17872363 2007 Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

PMID 18238816 2008 Nervous system KV7 disorders: breakdown of a subthreshold brake.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

rs1555850868 in KCNQ2 gene and Overgrowth PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 16829045 2006 Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.

PMID 15608631 2005 Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 10781098 2000 Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.

PMID 9430594 1998 A potassium channel mutation in neonatal human epilepsy.

PMID 10323247 1999 Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.

PMID 8327138 1993 Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with 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 18238816 2008 Nervous system KV7 disorders: breakdown of a subthreshold brake.

PMID 12742592 2003 Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 17872363 2007 Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 28602030 2017 Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

PMID 17675531 2007 Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

PMID 20196795 2010 Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.

PMID 22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

PMID 27861786 2017 Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

PMID 6965523 1980 Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone.

PMID 29129156 2017 A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

rs1057516084 in KCNQ2 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 PMID 23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 16319223 2005 Identification by mass spectrometry and functional characterization of two phosphorylation sites of KCNQ2/KCNQ3 channels.

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

PMID 14534157 2003 KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

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

PMID 15249611 2004 A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 11175290 2000 Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 24375629 2014 Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

PMID 23290024 2013 Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures.

PMID 19559753 2009 Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

PMID 19818940 2009 Novel mutation in KCNQ2 causing benign familial neonatal seizures.

PMID 15596769 2004 De novo KCNQ2 mutations in patients with benign neonatal seizures.

PMID 17129708 2007 Benign familial neonatal convulsions: always benign?

PMID 11690625 2001 Ion channel variation causes epilepsies.

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

PMID 17475800 2007 Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.

PMID 19344764 2009 Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures.

PMID 18246739 2008 A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC).

PMID 21913284 2011 Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures.

PMID 25960349 2015 Functional analysis of potassium channels in Kv7.2 G271V mutant causing early onset familial epilepsy.

PMID 16691402 2006 Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2.

PMID 10774989 2000 A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.

PMID 15030501 2004 Complete loss of the cytoplasmic carboxyl terminus of the KCNQ2 potassium channel: a novel mutation in a large Czech pedigree with benign neonatal convulsions or other epileptic phenotypes.

PMID 20119593 2010 The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.

PMID 16686649 2006 A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.

PMID 15178210 2004 A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family.

PMID 10323247 1999 Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.

PMID 14669214 2003 [A novel mutation of KCNQ2 gene in a Chinese family with benign familial neonatal convulsions].

PMID 12847176 2003 A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.

PMID 16260777 2006 Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions.

PMID 16966552 2006 Andreas Rett and benign familial neonatal convulsions revisited.

PMID 10482260 1999 A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions.

PMID 21937445 2011 A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy.

PMID 25046240 2015 Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

PMID 9872318 1998 Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.

PMID 11784811 2002 Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

PMID 16916607 2006 Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy.

rs118192226 in KCNQ2 gene and Seizures PMID 20119593 2010 The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.

PMID 14985406 2004 Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.

PMID 14534157 2003 KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PMID 6476007 1984 Familial neonatal and infantile seizures: an autosomal-dominant disorder.

PMID 23360469 2013 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

PMID 24375629 2014 Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

PMID 21937445 2011 A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

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

PMID 25740509 2015 Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

PMID 17475800 2007 Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.

PMID 25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 26138355 2016 Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

PMID 24586341 2014 Adult mice homozygous for Y284C, heretofore unexamined in animals, presented with spontaneous seizures, whereas A306T homozygotes died early.

PMID 8327138 1993 Seizure characteristics in chromosome 20 benign familial neonatal convulsions.

PMID 9872318 1998 Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.

PMID 9425895 1998 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PMID 18483067 2008 Adult Kcnq2(A306T/+) and Kcnq3(G311V/+) heterozygous knock-in mice exhibited reduced thresholds to electrically induced seizures compared to wild-type littermate mice.

PMID 19453707 2009 Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

rs1057516085 in KCNQ2 gene and X-linked infantile spasms PMID 25740509 2015 Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

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

PMID 28867141 2017 Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

PMID 28139826 2017 Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

PMID 27535030 2017 Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.

PMID 25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.

PMID 29190809 2017 Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.

PMID 24318194 2014 Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

PMID 23692823 2013 Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

PMID 27779742 2017 Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.

PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

PMID 22275249 2012 KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

PMID 16039833 2005 Neonatal seizures with tonic clonic sequences and poor developmental outcome.

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

PMID 22455920 2012 Gating currents from Kv7 channels carrying neuronal hyperexcitability mutations in the voltage-sensing domain.

PMID 23440208 2013 Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.

PMID 28133863 2017 Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

PMID 11572947 2001 Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PMID 22169383 2012 Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

PMID 24375629 2014 Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

PMID 27602407 2016 KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

PMID 24371303 2014 KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

PMID 24107868 2013 Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.

PMID 28283543 2017 KCNQ-SMIT complex formation facilitates ion channel-solute transporter cross talk.

PMID 26446091 2016 Seizures Due to a KCNQ2 Mutation: Treatment with Vitamin B6.