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
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families.
Skoczylas S et al.
Neurogenetics, 2023
A novel de novo heterozygous variant of the KCNQ2 gene: Contribution to early‑onset epileptic encephalopathy in a female infant.
Liu HF et al.
Molecular Medicine Reports, 2022
Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels.
Edmond MA et al.
Elife, 2022
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Mellone S et al.
Frontiers in Genetics, 2022
36035117 (PubMed )
Supplement: Table2.pdf
[KCNQ2 gene mutations and neonatal epilepsy].
García Castellanos MT et al.
Medicina Clinica, 2021
PIP2-dependent coupling of voltage sensor and pore domains in Kv7.2 channel.
Pant S et al.
Communications Biology, 2021
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction.
Nappi P et al.
Pflugers Archiv : European Journal of Physiology, 2020
KCNQ2 related early-onset epileptic encephalopathies in Chinese children.
Fang ZX et al.
Journal of Neurology, 2019
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
KCNQ-SMIT complex formation facilitates ion channel-solute transporter cross talk.
Neverisky DL et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2017
The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes.
Panaghie G et al.
The Journal of General Physiology, 2007
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