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_1_FINAL_DATASET_KCNQ2.xlsx › Pathogenic
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
Millichap JJ et al.
Neurology. Genetics, 2016
27602407 (PubMed )
Supplement: supp_2.5.e96_tables.docx
Benign familial neonatal convulsions: novel mutation in a newborn.
Lee IC et al.
Pediatric Neurology, 2009
Genetic polymorphisms and idiopathic generalized epilepsies.
Lucarini N et al.
Pediatric Neurology, 2007
Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.
Soldovieri MV et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007
A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.
de Haan GJ et al.
Epilepsia, 2006
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.
Richards MC et al.
Journal of Medical Genetics, 2004
Ion channel variation causes epilepsies.
Moulard B et al.
Brain Research. Brain Research Reviews, 2001
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