I. D. de Lange

发表

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

N. Knoers, E. Brilstra, Anja C. M. Sonsma, 2018, Epilepsia.

Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes

Flip Mulder, N. Knoers, C. D. de Kovel, 2019, Molecular genetics & genomic medicine.

Outcomes and comorbidities of SCN1A-related seizure disorders

N. Knoers, E. Brilstra, Anja C. M. Sonsma, 2019, Epilepsy & Behavior.

Male patients affected by mosaic PCDH19 mutations: five new cases

G. Mancini, P. Rump, D. Lindhout, 2017, neurogenetics.

Modifier genes in SCN1A‐related epilepsy syndromes

Flip Mulder, Robert F. Ernst, I. Nijman, 2020, Molecular genetics & genomic medicine.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

Orrin Devinsky, Eric Marsh, Pasquale Striano, 2016, Journal of Medical Genetics.

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome

V. Lefebvre, R. Bökenkamp, D. Barge-Schaapveld, 2022, Journal of Medical Genetics.

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

Flip Mulder, Robert F. Ernst, I. Nijman, 2018, Journal of Medical Genetics.

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

Flip Mulder, Robert F. Ernst, I. Nijman, 2018, Epilepsia.

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

I. Scheffer, M. Kattan, C. Depienne, 2022, Neurology.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

Heart failure subphenotypes based on repeated biomarker measurements are associated with clinical characteristics and adverse events (Bio-SHiFT study).

D. Rizopoulos, E. Boersma, I. Kardys, 2022, International journal of cardiology.

Male patients affected by mosaic PCDH19 mutations: five new cases

P. Rump, D. Lindhout, M. Kriek, 2017, neurogenetics.

ARF1-related disorder: phenotypic and molecular spectrum

P. Fergelot, F. Alkuraya, P. Bayrak-Toydemir, 2023, Journal of Medical Genetics.

Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies

B. Ceulemans, D. Mei, E. Brilstra, 2024, Epilepsia.