Associated Papers
[Triogenome sequencing in neonatal epilepsy].
Yücelbas S et al.
Ugeskrift for Laeger, 2025
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
Trio RNA sequencing in a cohort of medically complex children.
Deshwar AR et al.
American Journal of Human Genetics, 2023
36990084 (PubMed )
Supplement: mmc1.pdf
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
Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.
Bruun TUJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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