D. Lindhout

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
2023147 citationsauthor #180
Symptomatology of carbamazepine‐ and oxcarbazepine‐induced hyponatremia in people with epilepsy
202114 citationsauthor #7
Nature or nurture, of beide?
20210 citationsauthor #1
Using common genetic variants to find drugs for common epilepsies
20215 citationsauthor #85
Neurocognition after prenatal levetiracetam, lamotrigine, carbamazepine or valproate exposure
202029 citationsauthor #4
Well-being of mothers with epilepsy with school-aged children.
20205 citationsauthor #3
Declining malformation rates with changed antiepileptic drug prescribing
201983 citationsauthor #5
Fetal methotrexate syndrome: A systematic review of case reports.
201964 citationsauthor #5
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
201976 citationsauthor #58
Maternal epilepsy and behavioral development of the child: Family factors do matter.
20195 citationsauthor #3
Mutations in ACTL 6 B cause neurodevelopmental deficits and epilepsy and lead to 1 loss of dendrites in human neurons 2 3
20191 citationsauthor #62
Behavioral problems in children of mothers with epilepsy prenatally exposed to valproate, carbamazepine, lamotrigine, or levetiracetam monotherapy
201931 citationsauthor #3
A genome‐wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine
201913 citationsauthor #6
A Genome-Wide Association Study Of Sodium Levels And Drug Metabolism In A Carbamazepine And Oxcarbazepine Treated Epilepsy Cohort
20180 citationsauthor #7
Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry.
2018447 citationsauthor #5
EURAP registry: inadequate monitoring of prescribed drugs in pregnancy - Authors' reply.
20181 citationsauthor #5
EURAP & Development : Study protocol of a Dutch prospective observational study into fetal Antiepileptic Drug exposure and long-term neurocognitive, behavioral and family outcomes
20186 citationsauthor #4
Study protocol of a Dutch prospective observational study into fetal Antiepileptic Drug exposure and long-term neurocognitive, behavioral and family outcomes Huber-Mollema,
20180 citationsauthor #3
Epilepsy and unintended pregnancies
20172 citationsauthor #2
Advancing the phenome alongside the genome in epilepsy studies
20174 citationsauthor #2
University of Groningen Mutations in WNT 10 A are present in more than half of isolated hypodontia cases
20170 citationsauthor #6
PATIENTS AFFECTED BY MOSAIC PCDH19 MUTATIONS : 5 NEW CASES
20170 citationsauthor #15
Carbamazepine‐ and oxcarbazepine‐induced hyponatremia in people with epilepsy
201763 citationsauthor #4
Male patients affected by mosaic PCDH19 mutations: five new cases
201741 citationsauthor #15
Maternal and fetal outcomes associated with vagus nerve stimulation during pregnancy.
201723 citationsauthor #5
Withdrawal of valproic acid treatment during pregnancy and seizure outcome: Observations from EURAP
201690 citationsauthor #5
Epidemiology, pathophysiology and putative genetic basis of carbamazepine‐ and oxcarbazepine‐induced hyponatremia
201636 citationsauthor #5
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach
2015120 citationsauthor #7
Epilepsy treatment: precision medicine at a crossroads.
20155 citationsauthor #1
Seizure precipitants in Dravet syndrome: What events and activities are specifically provocative compared with other epilepsies?
201539 citationsauthor #7
Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies
2015103 citationsauthor #9
Antiepileptic drugs and intrauterine death
201562 citationsauthor #5
Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.
201517 citationsauthor #6
Dose-dependent teratogenicity of valproate in mono- and polytherapy
2015136 citationsauthor #5
Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach
201519 citationsauthor #7
Effect of vaccinations on seizure risk and disease course in Dravet syndrome
201535 citationsauthor #23
THE EFFECT OF ORAL CONTRACEPTIVES ON THE LAMOTRIGINE CONCENTRATION DEPENDS ON COMEDICATION
20140 citationsauthor #5
P24 Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalling
20142 citationsauthor #25
Atypical Vitamin B6 Deficiency
201411 citationsauthor #10
Effect of oral contraceptives on lamotrigine levels depends on comedication
201419 citationsauthor #5
Identification of Srp9 as a febrile seizure susceptibility gene
201418 citationsauthor #10
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders
201375 citationsauthor #24
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders
201375 citationsauthor #23
Loss-of-function mutations in MICU 1 cause a brain and muscle disorder linked to primary alterations in mitochondrial Ca 2 + signalling
20130 citationsauthor #25
Structural genomic variation in childhood epilepsies with complex phenotypes
201334 citationsauthor #19
Prevalence of SCN1A-Related Dravet Syndrome among Children Reported with Seizures following Vaccination: A Population-Based Ten-Year Cohort Study
201350 citationsauthor #5
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
2013364 citationsauthor #25
Erratum
20131 citationsauthor #105
The impact of age on lamotrigine and oxcarbazepine kinetics: a historical cohort study.
201330 citationsauthor #4
Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation
201315 citationsauthor #5
Seizure control and treatment changes in pregnancy: Observations from the EURAP epilepsy pregnancy registry
2013283 citationsauthor #5
Antiepileptic drugs during pregnancy and cognitive outcomes.
20132 citationsauthor #1
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders
20130 citationsauthor #17
A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD‐10 and SNOMED‐CT, Which Can Be Barriers to Genotype–Phenotype Data Sharing
201316 citationsauthor #3
Hyperactive behavior in a family with autosomal dominant lateral temporal lobe epilepsy caused by a mutation in the LGI1/epitempin gene.
201312 citationsauthor #3
Frequently asked questions on epilepsy, pregnancy and lactation: a EURAP-NL report.
20129 citationsauthor #2
Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep
201231 citationsauthor #6
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
2012154 citationsauthor #16
GENETICS OF EPILEPSY, A DUTCH COHORT STUDY
20120 citationsauthor #5
1508 Spectrum of Neural Tube Defects after Prenatal Antiepileptic Drug Exposure: Extensive Case Series
20120 citationsauthor #6
Mutations in WNT10A are present in more than half of isolated hypodontia cases
2012217 citationsauthor #6
The role of vitamin B6 deficiency in infantile epilepsies of unknown etiology
20120 citationsauthor #10
Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies
201237 citationsauthor #13
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus
201249 citationsauthor #17
A pre-visit tailored website enhances counselees’ realistic expectations and knowledge and fulfils information needs for breast cancer genetic counselling
201148 citationsauthor #3
Dose-dependent risk of malformations with antiepileptic drugs: an analysis of data from the EURAP epilepsy and pregnancy registry.
2011685 citationsauthor #5
1FC3.5 Copy number variations in patients with electrical status epilepticus in sleep
20110 citationsauthor #6
A retrospective population‐based study on seizures related to childhood vaccination
201121 citationsauthor #7
Adults with a history of possible Dravet syndrome: An illustration of the importance of analysis of the SCN1A gene
201121 citationsauthor #6
Chromosomal abnormalities resembling Joubert syndrome: two cases illustrating the diagnostic pitfalls
20113 citationsauthor #7
Nav1.1 dysfunction in genetic epilepsy with febrile seizures‐plus or Dravet syndrome
201163 citationsauthor #9
Pregnancy registries: Differences, similarities, and possible harmonization
201090 citationsauthor #6
Association Study of TRPC4 as a Candidate Gene for Generalized Epilepsy with Photosensitivity
201028 citationsauthor #8
Is hearing loss a feature of Joubert syndrome, a ciliopathy?
201012 citationsauthor #8
Drug monitoring of lamotrigine and oxcarbazepine combination during pregnancy
201050 citationsauthor #4
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
2010475 citationsauthor #41
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy
201012 citationsauthor #9
[Diagnosis of fetal alcohol spectrum disorders].
20106 citationsauthor #6
Diagnostiek van foetale alcoholspectrumstoornissen
20102 citationsauthor #6
Whole-genome linkage scan for epilepsy-related photosensitivity: a mega-analysis.
201045 citationsauthor #21
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
2009551 citationsauthor #40
Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.
200933 citationsauthor #7
VACCINE ENCEPHALOPATHIES AND DRAVET SYNDROME: PRELIMINARY DATA FROM THE VACENC STUDY
20090 citationsauthor #7
Lamotrigine kinetics within the menstrual cycle, after menopause, and with oral contraceptives
200954 citationsauthor #4
COMPUTATIONAL PREDICTION OF EPILEPSY CANDIDATE GENES
20090 citationsauthor #9
Hippocampal Navβ3 expression in patients with temporal lobe epilepsy
200922 citationsauthor #7
Endophenotype Strategy in Epilepsy Genetics
20090 citationsauthor #3
A CASE OF ALS-FTD IN A LARGE FALS PEDIGREE WITH A K17I ANG MUTATION
200985 citationsauthor #9
INTERSTITIAL DELETIONS OF CHROMOSOME 20 : A COMMON CAUSE OF BENIGN FAMILIAL NEONATAL CONVULSIONS AS DETECTED BY MLPA AND HIGH RESOLUTION SNP ARRAY
20092 citationsauthor #7
Case 43 – Genetic Counseling in a Woman with a Family History of Refractory Myoclonic Epilepsy*
20080 citationsauthor #1
Epilepsie en het SCN1A-gen
20080 citationsauthor #3
The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts
200840 citationsauthor #7
VACENC – A retrospective and prospective study of clinical and genetic characteristics of vaccine encephalopathies: preliminary clinical data
20080 citationsauthor #7
Genotype–phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia
200863 citationsauthor #4
Epilepsy and mental retardation limited to females: an under-recognized disorder.
2008187 citationsauthor #1
DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.
200843 citationsauthor #14
Possible role of the innate immunity in temporal lobe epilepsy
2008101 citationsauthor #7
Somatic mosaicism as a basic epileptogenic mechanism?
200821 citationsauthor #1
Retrospective case series of birth defects can predict malformation patterns associated with prenatal antiepileptic drug exposure
20080 citationsauthor #5
Low levels of prenatal alcohol exposure can cause fetal damage
20074 citationsauthor #4

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