Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
rs1555889103
in
KCNB1;LOC105372649
gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
PMID 25164438
2014 De novo KCNB1 mutations in epileptic encephalopathy.
PMID 29264397
2017 Clinical features and outcome of 6 new patients carrying de novo
KCNB1
gene mutations.
PMID 28252636
2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
PMID 28806457
2017 Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
PMID 26503721
2015 A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
PMID 26477325
2015 De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.
rs1555889130
in
LOC105372649;KCNB1
gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
PMID 26503721
2015 A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
PMID 26477325
2015 De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.
PMID 25164438
2014 De novo KCNB1 mutations in epileptic encephalopathy.
PMID 28806457
2017 Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
PMID 29264397
2017 Clinical features and outcome of 6 new patients carrying de novo
KCNB1
gene mutations.
PMID 26648591
2016 Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.