Bernhard Weschke
A5076205740- Tuberous Sclerosis Complex Research
- Polyomavirus and related diseases
- Metabolism and Genetic Disorders
- RNA regulation and disease
- Epilepsy research and treatment
- Cytomegalovirus and herpesvirus research
- interferon and immune responses
- Lysosomal Storage Disorders Research
- Connexins and lens biology
- RNA modifications and cancer
- Tumors and Oncological Cases
- Genetic and Kidney Cyst Diseases
- Pharmacological Effects and Toxicity Studies
- Renal and related cancers
- RNA and protein synthesis mechanisms
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Genomics and Rare Diseases
- Functional Brain Connectivity Studies
- Neurological disorders and treatments
- Biochemical and Molecular Research
- Peroxisome Proliferator-Activated Receptors
- Inflammasome and immune disorders
- Diet and metabolism studies
- EEG and Brain-Computer Interfaces
- Oral and gingival health research
Charité - Universitätsmedizin Berlin
2015-2024
Children's Memorial Health Institute
2022
Stichting Epilepsie Instellingen Nederland
2021
Children's Hospital Research Institute of Manitoba
2020
University of Toronto
2020
Hospital for Sick Children
2020
University of Manitoba
2020
SickKids Foundation
2020
Humboldt-Universität zu Berlin
1998-2017
Freie Universität Berlin
2017
Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene majority of patients and results impaired glucose transport into brain. From 2004–2008, 132 requests for mutational analysis were studied automated Sanger sequencing multiplex ligation-dependent probe amplification. Mutations detected 54 (41%) subsequently three clinically affected family members. In these 57 we identified 49 different mutations, including six multiple exon deletions, known 37 novel (13...
Objective Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC) and is often resistant medication. Recently, the concept preventive antiepileptic treatment modify natural history epilepsy has been proposed. EPISTOP was a clinical trial designed compare versus conventional TSC infants. Methods In this multicenter study, 94 infants without seizure were followed monthly video electroencephalography (EEG), received vigabatrin either as treatment, started after first...
Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organ systems, with a prevalence of 1:6,760–1:13,520 live births in Germany. On the molecular level, TSC caused by heterozygous loss-of-function variants either genes TSC1 or TSC2 , encoding Tuberin-Hamartin complex, which acts as critical upstream suppressor mammalian target rapamycin (mTOR), key signaling pathway controlling cellular growth and metabolism. Despite therapeutic...
Tyrosine hydroxylase deficiency is an autosomal recessive disorder resulting from cerebral catecholamine deficiency. has been reported in fewer than 40 patients worldwide. To recapitulate all available evidence on clinical phenotypes and rational diagnostic therapeutic approaches for this devastating, but treatable, neurometabolic disorder, we studied 36 with tyrosine reviewed the literature. Based presenting neurological features, can be divided two phenotypes: infantile onset, progressive,...
Congenital myasthenic syndromes (CMS) are clinically and genetically heterogeneous inherited disorders characterized by impaired neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (COLQ) cause synaptic basal-lamina associated CMS with end-plate AChE deficiency. Here we present clinical molecular genetic findings of 22 COLQ-mutant patients, carrying a total 20 different COLQ mutations, 11 them had not previously been reported. Typically,...
<h3>Importance</h3> Allogeneic hematopoietic stem cell transplantation (HSCT) has been the only treatment option clinically available during last 20 years for juvenile metachromatic leukodystrophy (MLD), reported with variable outcome and without comparison natural course of disease. <h3>Objective</h3> To compare long-term patients who underwent allogeneic HSCT control did not among a cohort MLD. <h3>Design, Setting, Participants</h3> Patients MLD born between 1975 2009 received at median...
Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD. This study aimed identify the early clinical markers of ASD and/or developmental delay (DD) an diagnosis TSC. We prospectively evaluated 82 TSC (6-24 months age), using a detailed neuropsychological assessment (Bayley Scales Infant Development-BSID, and Diagnostic Observation Schedule-ADOS), context EPISTOP...
Abstract Mutations in the cytoplasmic dynein 1 heavy chain gene ( DYNC1H1 ) have been identified rare neuromuscular (NMD) and neurodevelopmental (NDD) disorders such as spinal muscular atrophy with lower extremity dominance (SMALED) autosomal dominant mental retardation syndrome 13 (MRD13). Phenotypes genotypes of ten pediatric patients pathogenic variants were analyzed a multi-center study. Data mining large-scale genomic variant databases was used to investigate domain-specific...
<h3>Objective</h3> To determine that children with arterial ischemic stroke (AIS) due to an identifiable arteriopathy are distinct from those without and each subtype has unique recognizable clinical features. <h3>Methods</h3> We report a large, observational, multicenter cohort of AIS, age 1 month 18 years, enrolled in the International Pediatric Stroke Study 2003 2014. Clinical demographic differences were compared by use Fisher exact test, linear step-up permutation min-<i>p</i>...
Summary Objective To study the association between timing and characteristics of first electroencephalography (EEG) with epileptiform discharges (ED‐EEG) epilepsy neurodevelopment at 24 months in infants tuberous sclerosis complex (TSC). Methods Patients enrolled prospective Epileptogenesis a genetic model – Tuberous (EPISTOP) trial, had serial EEG monitoring until age months. The ED‐EEG were studied relation to clinical outcome. Epilepsy‐related outcomes analyzed separately conventionally...
Cardiac rhabdomyomas are a possible early manifestation of the Tuberous Sclerosis Complex (TSC). They often regress spontaneously but may grow and cause cardiac dysfunction, threatening child's life. Treatment with rapalogs can stop growth these tumors even make them shrink. Here, we present case successful treatment rhabdomyoma in fetus TSC by administering sirolimus to mother. The father carries TSC2 mutation family already had child TSC. After confirmed diagnosis tumor impending heart...
Glycinergic neurotransmission is a major inhibitory influence in the CNS and its disruption triggers paediatric adult startle disorder, hyperekplexia. The postsynaptic α(1)-subunit (GLRA1) of glycine receptor (GlyR) cognate presynaptic transporter (SLC6A5/GlyT2) are well-established genes effect Nevertheless, 52% cases (117 from 232) remain gene negative unexplained. Ligand-gated heteropentameric GlyRs form chloride ion channels that contain α(1) β-subunits (GLRB) 2α(1):3β configuration they...
<h3>Importance</h3> Allogeneic hematopoietic stem cell transplantation is the standard intervention for childhood cerebral X-linked adrenoleukodystrophy. However, pretransplant conditions, demyelination patterns, complications, and neurological outcomes of this therapy are not well characterized. <h3>Objectives</h3> To identify risks to stable neurocognitive survival after describe subgroups patients with distinct clinical long-term outcomes. <h3>Design, Setting, Participants</h3> This case...
Abstract Objective To evaluate the relationship between age at seizure onset and neurodevelopmental outcome 24 months in infants with TSC, as well effect on of early versus conventional treatment epileptic seizures vigabatrin (80–150 mg/kg/day). Methods Infants aged ≤4 without previous were enrolled a prospective study closely followed monthly video EEG serial standardized testing (Bayley Scales Infant Development Autism Diagnostic Observation Schedule). Results Eighty enrolled. At...
Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder with high risk of early-onset epilepsy and prevalence neurodevelopmental comorbidities, including intellectual disability autism spectrum (ASD). Therefore, TSC an interesting disease model to investigate early biomarkers comorbidities when interventions are favourable. We investigated whether EEG characteristics can be used predict neurodevelopment in infants TSC. The first recorded 64 TSC, enrolled the international...
To correlate fetal brain magnetic resonance imaging (MRI) findings with epilepsy characteristics and neurodevelopment at 2 years of age in children tuberous sclerosis complex (TSC) to improve prenatal counseling.This retrospective cohort study was performed a collaboration between centers the EPISTOP consortium. We included definite TSC, MRIs, available follow-up data age. A pediatric neuroradiologist masked patient's clinical evaluated all MRIs. MRIs were categorized for each 10 lobes as...
<h3>Background and Objectives</h3> Multiple factors have been found to contribute the high risk of epilepsy in infants with tuberous sclerosis complex (TSC), including evolution EEG abnormalities, <i>TSC</i> gene variant, MRI characteristics. The aim this prospective multicenter study was identify early biomarkers TSC aged <6 months before seizure onset, associate these neurodevelopmental outcomes at 2 years age. part EPISTOP project. <h3>Methods</h3> We evaluated brain MRIs performed...
The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority Mendelian diseases. Here, we describe the first 2 inherited disorders cytosolic iron-sulfur protein assembly system.
Background and Purpose— Familial hemiplegic migraine is characterized by recurrent migraine, hemiparesis, ataxia. Causes may be mutations in calcium sodium channels or a subunit of the Na/K-ATPse. Migraine treatment with channel blockers was only successful some patients. Summary Case— We describe 6-year-old girl ischemic strokes after minor head trauma associated seizures, fever, altered consciousness. Genetic analysis revealed spontaneous, novel dominant CACNA1A mutation (c.4046G→A,...