Condition: SEIZURES, BENIGN FAMILIAL NEONATAL, 1


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.

rs1057516076 in KCNQ2-AS1;KCNQ2 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 PMID 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

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

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

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

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

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

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

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

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

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

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.

rs1057516078 in KCNQ2;KCNQ2-AS1 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 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

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

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

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

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

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

PMID 18006581 2008 Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy.

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

PMID 17129708 2007 Benign familial neonatal convulsions: always benign?

rs1057516105 in KCNQ2;LOC105372721 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 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 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

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

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

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

rs1057516123 in KCNQ2;LOC105372724 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 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 17129708 2007 Benign familial neonatal convulsions: always benign?

rs1057516106 in LOC105372721;KCNQ2 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 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 25982755 2015 Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

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

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

PMID 17993630 2008 Calmodulin regulates the trafficking of KCNQ2 potassium channels.

rs118192234 in LOC105372724;KCNQ2 gene and SEIZURES, BENIGN FAMILIAL NEONATAL, 1 PMID 11690625 2001 Ion channel variation causes epilepsies.

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

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

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

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

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

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.