Dragan Marjanović
A5032546809- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Ion channel regulation and function
- Genomics and Rare Diseases
- Contact Dermatitis and Allergies
- Ubiquitin and proteasome pathways
- Skin Protection and Aging
- Mitochondrial Function and Pathology
- Respiratory Support and Mechanisms
- Textile materials and evaluations
- RNA regulation and disease
- Protein Tyrosine Phosphatases
- Cellular transport and secretion
- Pediatric Hepatobiliary Diseases and Treatments
- SARS-CoV-2 and COVID-19 Research
- Pharmacological Effects and Toxicity Studies
- Cholesterol and Lipid Metabolism
- Glycogen Storage Diseases and Myoclonus
- Attention Deficit Hyperactivity Disorder
- Amoebic Infections and Treatments
- Congenital Anomalies and Fetal Surgery
- Dermatologic Treatments and Research
- Carbohydrate Chemistry and Synthesis
- Forensic and Genetic Research
- 14-3-3 protein interactions
Holbæk Sygehus
2024
University of Antwerp
2022
VIB-UAntwerp Center for Molecular Neurology
2022
Antwerp University Hospital
2022
Hospices Civils de Lyon
2022
Hôpital Femme Mère Enfant
2022
Filadelfia
2018-2022
University of Prishtina
2019-2020
University of Southern Denmark
2018
Epilepsy Action
2016
Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well milder phenotypes associated with genetic febrile seizures plus. Gain of function SCN1A are familial hemiplegic migraine type 3. Novel SCN1A-related have been described including early infantile developmental and epileptic encephalopathy movement disorder, more recently neonatal presentations arthrogryposis. Here we describe clinical, functional evaluation affected...
Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or gain-of-function of voltage-gated K+ channel Kv1.2, were described to cause new molecular entity within epileptic encephalopathies. Here, we report cohort 23 patients (eight previously described) with encephalopathy carrying novel known KCNA2 mutations, aim detail clinical phenotype associated each them, characterize functional effects newly identified and assess genotype-phenotype...
In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in patient can still be difficult, since extensive phenotypic and heterogeneity has observed many monogenic epilepsies. This study aimed to analyze the basis of wide spectrum epilepsies age onset spanning from neonatal period adulthood. A gene panel targeting 46 epilepsy was used on cohort 216 patients consecutively referred for testing. The had range different benign seizures...
Genetic testing has become a routine part of the diagnostic workup in children with early onset epilepsies. In present study, we sought to investigate cohort adult patients epilepsy, determinate yield and explore gain personalized treatment approaches patients.Two hundred (age span = 18-80 years) referred for gene panel at Danish Epilepsy Center were included. The vast majority (91%) suffered from comorbid intellectual disability. medical records genetically diagnosed mined data on epilepsy...
4-Aminopyridine is a potential therapeutic option for subgroup of patients with KCNA2 -encephalopathy and gain-of-function variants.
Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural history of STXBP1-DEE in adults focusing on seizure evolution, presence movement disorders, level functional (in)dependence. In this observational study, patients with minimum age 18 years carrying (likely) pathogenic variant were recruited through medical genetics departments epilepsy centers. Treating clinicians completed clinical questionnaires...
N-methyl d-aspartate receptors are ligand-gated ionotropic mediating a slow, calcium-permeable component of excitatory synaptic transmission in the CNS. Variants genes encoding NMDAR subunits have been associated with spectrum neurodevelopmental disorders. Here we report six novel GRIN2D variants and one previously-described disease-associated variant two patients developmental epileptic encephalopathy. encodes for GluN2D subunit protein; amino acids affected by this located pre-M1 helix,...
PurposeVariants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy males and females. We aimed to investigate sex-specific differences.MethodsWe collected the data of 37 unpublished patients (18 19 females) IQSEC2 pathogenic variants 5 individuals unknown significance reviewed published variants. compared variant types phenotypes females performed an analysis isoforms.ResultsIQSEC2 mainly led premature truncation were scattered throughout...
Abstract Vacuolar-type H+-ATPase (V-ATPase) is a multimeric complex present in variety of cellular membranes that acts as an ATP-dependent proton pump and plays key role pH homeostasis intracellular signalling pathways. In humans, 22 autosomal genes encode for redundant set subunits allowing the composition diverse V-ATPase complexes with specific properties expression. Sixteen have been linked to human disease. Here we describe 26 patients harbouring 20 distinct pathogenic de novo missense...
Abstract Objective YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of large cohort, which doubles the number reported patients, we further delineate spectrum ‐related epilepsy. Methods We included in this study 24 21 new three previously described, pathogenic/likely pathogenic...
Cut homeodomain transcription factor CUX2 plays an important role in dendrite branching, spine development, and synapse formation layer II to III neurons of the cerebral cortex. We identify a recurrent de novo p.Glu590Lys as novel genetic cause for developmental epileptic encephalopathy (DEE).The variant was identified by whole-exome sequencing (n = 5) or targeted gene panel 4). performed electroclinical imaging phenotyping on all patients.The cohort comprised 7 males 2 females. Mean age at...
IRF2BPL has recently been described as a novel cause of neurodevelopmental disorders with multisystemic regression, epilepsy, cerebellar symptoms, dysphagia, dystonia, and pyramidal signs. We describe phenotype consistent progressive myoclonus epilepsy (PME) in three subjects review the features 31 IRF2BPL-related previously reported. Our probands, aged 28-40 years, harbored de novo nonsense variants (c.370C > T, p.[Gln124*] c.364C T; p.[Gln122*], respectively). From late...
Introduction: Elastic fibers are constituents of the dermal extracellular matrix, determining histoarchitecture connective tissue. Organization and density elastic change as skin ages. The aim this paper was to determine similarities differences between photo-aging physiological aging by examining organization quantifying in dermis during aging. material included samples photoexposed photoprotected skin, obtained from 90 cadavers aged 0-82 years. were classified into five age groups:...
<p>Introduction: Elastic fibers are constituents of the dermal extracellular matrix, determining histoarchitecture the<br />dermal connective tissue. Organization and density elastic change as skin ages. The aim this paper was to determine similarities differences between photo-aging physiological aging by examining organization quantifying in dermis during aging. material included samples photoexposed photoprotected skin, obtained from 90 cadavers aged 0-82...
<jats:p>Coronavirus Disease (COVID-19) is caused by the RNA virus SARS-CoV-2. The primary receptor for most likely Angiotensin-converting enzyme 2 (ACE2), and enters body infecting epithelial cells of respiratory tract. Through activation Toll Like Receptors (TLRs), begin to synthesize various biologically active molecules. pathophysiology COVID 19 primarily attributed hyperactivation host's immune system due direct damage cells, with consequent release proinflammatory...