Associated Papers
Spotlight on mechanism of sudden unexpected death in epilepsy in Dravet syndrome.
Shao W et al.
Translational Psychiatry, 2025
N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.
Mayo S et al.
International Journal of Molecular Sciences, 2023
Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy.
Naseer MI et al.
Frontiers in Pediatrics, 2022
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
Coste de Bagneaux P et al.
Plos Genetics, 2020
Structure and function of the β subunit of voltage-gated Ca²⁺ channels.
Buraei Z et al.
Biochimica Et Biophysica Acta, 2013
Sodium channel SCN1A and epilepsy: mutations and mechanisms.
Escayg A et al.
Epilepsia, 2010
A CACNB4 mutation shows that altered Ca(v)2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy.
Ohmori I et al.
Neurobiology of Disease, 2008
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