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Expression Profiling after Prolonged Experimental Febrile Seizures in Mice Suggests Structural Remodeling in the HippocampusThe chemokine CCL2 modulates Ca2+ dynamics and electrophysiological properties of cultured cerebellar Purkinje neuronsMutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe EncephalopathyMutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingDe Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive DysmorphismsRevertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.Chronic exposure to the chemokine CCL3 enhances neuronal network activity in rat hippocampal cultures.De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.A New Approach for Fast Metabolic Diagnostics in CMAMMA.De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyPossible role of the innate immunity in temporal lobe epilepsy.De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disabilityEffectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?Characterization of febrile seizures and febrile seizure susceptibility in mouse inbred strains.Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.Hippocampal distribution of vesicular glutamate transporter 1 in patients with temporal lobe epilepsy.De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.Haploinsufficiency of glutamine synthetase increases susceptibility to experimental febrile seizures.WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.Points to consider for laboratories reporting results from diagnostic genomic sequencing.Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.Identification of C12orf4 as a gene for autosomal recessive intellectual disability.Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.De novo variants in CDK13 associated with syndromic ID/DD; molecular and clinical delineation of 15 individuals and a further review.Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous DiseasesExpanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Koen Van Gassen
@ast
Koen Van Gassen
@en
Koen Van Gassen
@es
Koen Van Gassen
@nl
type
label
Koen Van Gassen
@ast
Koen Van Gassen
@en
Koen Van Gassen
@es
Koen Van Gassen
@nl
prefLabel
Koen Van Gassen
@ast
Koen Van Gassen
@en
Koen Van Gassen
@es
Koen Van Gassen
@nl
P106
P31
P496
0000-0001-7934-0662