Associated Papers
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable1.xlsx › SupplementaryTable1_upd
Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.
Xie C et al.
Molecular Neurobiology, 2024
A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine.
Imbrici P et al.
International Journal of Molecular Sciences, 2021
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.
Allou L et al.
Clinical Genetics, 2017
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
Syrbe S et al.
Nature Genetics, 2015
Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.
Pena SD et al.
Clinical Genetics, 2015
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.
Miceli F et al.
Frontiers in Cellular Neuroscience, 2015
Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment.
Vacher H et al.
Epilepsia, 2012
A new Kv1.2 channelopathy underlying cerebellar ataxia.
Xie G et al.
The Journal of Biological Chemistry, 2010
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