Associated Papers
The Role of Genetic Testing in Pediatric Expressive Language Delay: Evidence from the National Brain Gene Registry.
Waghmare S et al.
Genes, 2026
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_1_FINAL_DATASET_KCNQ2.xlsx › Pathogenic
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy.
Ye J et al.
Frontiers in Molecular Neuroscience, 2023
Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders.
Xiao T et al.
Frontiers in Molecular Neuroscience, 2022
Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.
Xu Y et al.
Bmc Pediatrics, 2021
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