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
38474157 (PubMed )
Supplement: ijms-25-02910-s001.zip › Supp_Data_3_KCNQ2_All_Predictions.xlsx › CatBoost
High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.
Vanoye CG et al.
Jci Insight, 2022
35104249 (PubMed )
Supplement: jciinsight-7-156314-s075.pdf
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
Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures.
Cornet MC et al.
Epilepsia, 2021
Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.
Zhang J et al.
Scientific Reports, 2020
32179837 (PubMed )
Supplement: 41598_2020_61697_MOESM2_ESM.pdf
Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy.
Gomis-Pérez C et al.
Epilepsia, 2019
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
Cortès-Saladelafont E et al.
Developmental Medicine and Child Neurology, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.
Hortigüela M et al.
Journal of Human Genetics, 2017
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