Associated Papers
Impact of Genetic Testing Using Gene Panels, Exomes, and Genome Sequencing in Romanian Children with Epilepsy.
Sabau IM et al.
International Journal of Molecular Sciences, 2025
40429983 (PubMed )
Supplement: ijms-26-04843-s001.zip › positive_Supplementary.xlsx › Causative_variants
Potassium channel-related epilepsy: Pathogenesis and clinical features.
Zhao T et al.
Epilepsia Open, 2024
Voltage-gated potassium channels as a potential therapeutic target for the treatment of neurological and psychiatric disorders.
Faulkner IE et al.
Frontiers in Cellular Neuroscience, 2024
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine.
Ambrosino P et al.
Epilepsia, 2023
Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes.
Li X et al.
Annals of Translational Medicine, 2021
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.
Park J et al.
Annals of Clinical and Translational Neurology, 2019
Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.
Lee SH et al.
Oncotarget, 2017
28179590 (PubMed )
Supplement: oncotarget-08-6579-s002.xlsx › Table_S2
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