Associated Papers
Mislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy.
Springer K et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2026
Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction.
Bidwell JS et al.
Epilepsia Open, 2025
Machine Learning Resolves Functional Phenotypes and Therapeutic Responses in KCNQ2 Developmental Epileptic Encephalopathy iPSC Models.
Simkin D et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical and genetic analysis of 18 patients with KCNQ2 mutations from South China.
Cao B et al.
The Turkish Journal of Pediatrics, 2024
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
Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures.
Cornet MC et al.
Epilepsia, 2021
A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy.
Benetou C et al.
The Turkish Journal of Pediatrics, 2019
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