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Publications by Marjan J. A. Kempen

Influence of Common SCN1A Promoter Variants on the Severity of SCN1A ‐related Phenotypes

Molecular genetics & genomic medicine

Molecular Biology

English

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Mosaicism of De Novo Pathogenic SCN1A Variants in Epilepsy Is a Frequent Phenomenon That Correlates With Variable Phenotypes

English

Re-Annotation of 191 Developmental and Epileptic Encephalopathy-Associated Genes Unmasks De Novo Variants in SCN1A

npj Genomic Medicine

Molecular Biology

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Early Infantile SCN1A Epileptic Encephalopathy: Expanding the Genotype-Phenotype Correlations

Seizure : the journal of the British Epilepsy Association

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Pharmacological Analysis of the Anti-Epileptic Mechanisms of Fenfluramine in Scn1a Mutant Zebrafish

Frontiers in Pharmacology

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Predicting the Influence of Common Variants

Nature Genetics

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Analysis of SCN1A Mutation and Parental Origin in Patients With Dravet Syndrome

Journal of Human Genetics

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Neural Phenotypes of Common and Rare Genetic Variants

Biological Psychology

Physiological Psychology

Neuropsychology

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Association Between SCN1A Gene Polymorphisms and Drug Resistant Epilepsy in Pediatric Patients

Seizure : the journal of the British Epilepsy Association

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Lack of Replication of Association Between Scn1a SNP and Febrile Seizures

English