Ruben H. Van 't Slot

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 18 publications

Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background.

Penetrance of pathogenic epilepsy variants is low and shaped by common genetic background.

Journal: Epilepsia

Published: June 23, 2025

Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids.

Increased prime edit rates in KCNQ2 and SCN1A via single nicking all-in-one plasmids.

Journal: BMC biology

Published: June 07, 2022

CRISPRa-Mediated Upregulation of scn1laa During Early Development Causes Epileptiform Activity and dCas9-Associated Toxicity.

CRISPRa-Mediated Upregulation of scn1laa During Early Development Causes Epileptiform Activity and dCas9-Associated Toxicity.

Journal: The CRISPR journal

Published: August 18, 2021

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome.

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome.

Journal: PloS one

Published: July 08, 2019

Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.

Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes.

Journal: Molecular genetics & genomic medicine

Published: November 19, 2018

Modifier genes in SCN1A-related epilepsy syndromes.

Modifier genes in SCN1A-related epilepsy syndromes.

Journal: Molecular genetics & genomic medicine

Published: November 19, 2018

Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.

Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.

Journal: Journal of medical genetics

Published: August 08, 2018

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.

Journal: Epilepsia

Published: January 16, 2018

Survival of autoreactive T lymphocytes by microRNA-mediated regulation of apoptosis through TRAIL and Fas in type 1 diabetes.

Survival of autoreactive T lymphocytes by microRNA-mediated regulation of apoptosis through TRAIL and Fas in type 1 diabetes.

Journal: Genes and immunity

Published: November 16, 2015

Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population.

Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population.

Journal: PloS one

Published: June 18, 2015

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.

Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.

Journal: Brain : a journal of neurology

Published: April 30, 2015

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.

A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.

Journal: Human molecular genetics

Published: June 25, 2014

Showing 1-12 of 18

Last Updated: 09/26/2026