Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7


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.

rs1057516077 in KCNQ2-AS1;KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 22926866 2012 Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.

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

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 23934111 2013 De novo mutations in epileptic encephalopathies.

rs35450031 in KCNQ2;LOC105372724 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 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 12754513 2003 AKAP150 signaling complex promotes suppression of the M-current by muscarinic agonists.

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

PMID 25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.

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

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

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

rs1057516104 in LOC105372721;KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

rs118192234 in LOC105372724;KCNQ2 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 PMID 23621294 2013 Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

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

PMID 25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.

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

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

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

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

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

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

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

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