Associated Papers
MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.
Saez-Matia A et al.
International Journal of Molecular Sciences, 2024
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Vanoye CG et al.
Jci Insight, 2022
KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.
Lee IC et al.
Cells, 2022
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
Mary L et al.
American Journal of Medical Genetics. Part A, 2021
Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes.
Lee IC et al.
Scientific Reports, 2020
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Nappi P et al.
Pflugers Archiv : European Journal of Physiology, 2020
Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.
Zhang J et al.
Scientific Reports, 2020
A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data.
Laccetta G et al.
Frontiers in Pediatrics, 2019
KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures.
Freibauer A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2018
De Novo KCNQ2 Mutation in One Case of Epilepsy of Infancy With Migrating Focal Seizures That Evolved to Infantile Spasms.
Duan H et al.
Child Neurology Open, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.
Hortigüela M et al.
Journal of Human Genetics, 2017
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Millichap JJ et al.
Neurology. Genetics, 2016
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
Milh M et al.
American Journal of Medical Genetics. Part A, 2015
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.
Abidi A et al.
Neurobiology of Disease, 2015
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
Kato M et al.
Epilepsia, 2013
Benign familial neonatal convulsions: always benign?
Steinlein OK et al.
Epilepsy Research, 2007
[Benign familial neonatal convulsions, febrile crises and epilepsy. Their coincidence in a family].
Palencia R et al.
Anales Espanoles De Pediatria, 1985