Associated Papers
A case of early epileptic encephalopathy caused by new mutation at W218C in KCNQ2 and review literature.
Yang J et al.
Biochemistry and Biophysics Reports, 2025
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 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_1_FINAL_DATASET_KCNQ2.xlsx › Pathogenic
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.
Guerrini R et al.
Physiological Reviews, 2023
A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment.
Milh M et al.
Epilepsia, 2020
Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.
Hawkins NA et al.
Neurobiology of Disease, 2011
Fine mapping of an epilepsy modifier gene on mouse Chromosome 19.
Bergren SK et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2009
Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.
Kearney JA et al.
Human Molecular Genetics, 2006
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