Timo Roser
A5066840030- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Tuberous Sclerosis Complex Research
- Metabolism and Genetic Disorders
- Histiocytic Disorders and Treatments
- Ion channel regulation and function
- Ion Transport and Channel Regulation
- Polyomavirus and related diseases
- Autism Spectrum Disorder Research
- Migraine and Headache Studies
- Diet and metabolism studies
- Cellular transport and secretion
- Myofascial pain diagnosis and treatment
- RNA regulation and disease
- Chromatin Remodeling and Cancer
- Congenital heart defects research
- PI3K/AKT/mTOR signaling in cancer
- Glioma Diagnosis and Treatment
- Infectious Encephalopathies and Encephalitis
- Pharmacological Effects and Toxicity Studies
- Long-Term Effects of COVID-19
- CRISPR and Genetic Engineering
- Drug Transport and Resistance Mechanisms
- Cerebral Venous Sinus Thrombosis
Ludwig-Maximilians-Universität München
2012-2025
München Klinik
2019
Tuberous sclerosis complex (TSC) is a multisystem disease with prominent neurologic manifestations such as epilepsy, cognitive impairment and autism spectrum disorder. mTOR inhibitors have successfully been used to treat TSC-related in older children adults. However, data on their safety efficacy infants young are scarce. The objective of this study assess the utility inhibitor treatment TSC patients under age 2 years. A total 17 (median at inclusion 2.4 years, range 0–6; 12 males, 5...
Up to 40% of neurodevelopmental disorders (NDDs) such as intellectual disability, developmental delay, autism spectrum disorder, and motor abnormalities have a documented underlying monogenic defect, primarily due de novo variants. Still, the overall burden variants well novel disease genes in NDDs await discovery. We performed parent-offspring trio exome sequencing 231 individuals with NDDs. Phenotypes were compiled using human phenotype ontology terms. The diagnostic yield was 49.8% (n =...
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...
Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 KPTN variants have been associated with autosomal recessive intellectual disability epileptic encephalopathy. We identified bi-allelic KICS2 in eleven affected individuals presenting epilepsy. These partly stability, compromised complex formation, demonstrated a deleterious impact on...
MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental caused by copy number gains spanning MECP2. Despite varying genomic rearrangement structures, including duplications and triplications, wide range of duplication sizes, no clear correlation exists between DNA clinical features. We had previously demonstrated that up to 38% MRXSL families are characterized complex rearrangements (CGRs) intermediate...
Abstract Pontocerebellar hypoplasia (PCH) describes a group of rare heterogeneous neurodegenerative diseases with prenatal onset. Here we describe eight children PCH from four unrelated families harboring the homozygous MINPP1 (NM_004897.4) variants; c.75_94del, p.(Leu27Argfs*39), c.851 C > A, p.(Ala284Asp), c.1210 T, p.(Arg404*), and c.992 T G, p.(Ile331Ser). The p.(Leu27Argfs*39) change is predicted to result in complete absence MINPP1. p.(Arg404*) would likely lead nonsense mediated...
<b>Introduction</b> A total of 83% children report headache during a 6-month period. The estimated 1-year prevalence chronic daily (CDH) in is at least 1 to 2%. Muscle pain associated with severity and chronicity. can be active muscular trigger points, functional concept still remaining controversy. An integrated approach including bio-behavioral management accepted as standard treatment but does not provide sufficient relief all patients. <b>Objective</b> We the individual clinical course...
Children have been described to show neurological symptoms in acute coronavirus disease 2019 (COVID-19) and multisystemic inflammatory syndrome children (MIS-C). We present a 2-year-old boy's clinical course of unilateral sixth nerve palsy the context severe respiratory 2 (SARS-CoV-2) infection. Onset otherwise healthy boy occurred seven days after attributed infection had subsided respectively 3 weeks onset symptoms. SARS-CoV-2 specific IgG was detected serum as well cerebrospinal fluid....
Tuberous sclerosis complex (TSC) is an autosomal-dominant inheritable neurocutaneous disease due to mutations within the TSC1 and TSC2 genes. Many patients present with West syndrome, a severe epilepsy syndrome characterized by triad of infantile spasms, interictal electroencephalogram (EEG) pattern termed hypsarrhythmia (continuous slow activity amplitude higher than 300 µV multiregional spikes/polyspikes/sharp waves) developmental regression. In this study, we report on previously healthy...
We investigated the cognitive and behavioral profile of three distinct groups epilepsies with a genetic background for intergroup differences: (1) idiopathic/genetic generalized (IGE/GGE group); (2) idiopathic focal (IFE (3) proven or strongly suggested monogenic structural/numeric chromosomal etiology (genetic epilepsies, GE group). Cognitive (total IQ subcategories) parameters (CBCL) were assessed at tertiary epilepsy center University Munich (Germany). used ANOVA post-hoc...
Objectives: Since the first linkage of ATP1A3 gene to phenotypes with neurologic disorders such as Alternating hemiplegia Childhood or Rapid-onset Dystonia-Parkinsonism from 2012 on, it became apparent, that a remarkable subgroup patients was suffering epilepsy. The treatment seizures is an ongoing and often problematic issue. aim present study assess prevalence efficacy commonly used anti-epileptic-drugs in patients.
Background: In the case of high-grade brain tumours (WHO grade III-IV), chemotherapy and/or radiation therapy is usually performed in addition to resection tumor. Chronic refractory epilepsy can occur due remaining tumor cells or radiation-related secondary damage. Invasive EEG monitoring with subdural stereotactically implanted depth electrodes are often required test indication for surgery. The re-craniotomy and channels carry potential risk residual cell displacement.
Objective: Tuberous sclerosis complex (TSC) is a multisystem disease with prominent neurologic manifestations such as epilepsy, cognitive impairment and autism spectrum disorder. mTOR inhibitors have successfully been used to treat TSC-related in older children adults. However, data on safety efficacy infants young are scarce. The objective of this study assess the utility inhibitor treatment TSC under age 2 years.