Marjan A. Van Kempen

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 31 publications

The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins.

The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins.

Journal: Journal of biomedical science
Published: July 11, 2024

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.

Journal: Epilepsia open
Published: February 22, 2023

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 30, 2021

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

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 04, 2018

Correction: The landscape of epilepsy-related GATOR1 variants.

Correction: The landscape of epilepsy-related GATOR1 variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 29, 2018

Correction to: The landscape of epilepsy-related GATOR1 variants.

Correction to: The landscape of epilepsy-related GATOR1 variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 31, 2018

Outcomes and comorbidities of SCN1A-related seizure disorders.

Outcomes and comorbidities of SCN1A-related seizure disorders.

Journal: Epilepsy & behavior : E&B
Published: August 09, 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

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 17, 2018

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A-related seizure phenotypes.

Journal: Epilepsia
Published: April 06, 2018
Showing 1-12 of 31

Last Updated: 09/26/2026