Publications by authors named "Tobias Baumgartner"

10 Publications

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COVID-19 vaccination in patients with epilepsy: First experiences in a German tertiary epilepsy center.

Epilepsy Behav 2021 Jun 21;122:108160. Epub 2021 Jun 21.

Department of Epileptology, University Hospital of Bonn, Bonn, Germany.

Introduction: Due to the high demand for information regarding COVID-19 vaccination in people with epilepsy (PWE), we assessed the symptoms and seizure control of PWE following their COVID-19 vaccination.

Methods: All adult patients who were treated at our center were asked to report on their vaccination status and, if vaccinated, about their experiences following their first COVID-19 vaccination with regard to adverse effects and seizure control.

Results: Fifty-four PWE have already received their first vaccination against COVID-19 (27 female, 20% seizure free, 96<% on antiseizure medication) and were included in the study. Two-thirds tolerated the vaccines generally either very well or well. Thirty-three percent reported general vaccination adverse effects. The most frequently reported general adverse effects were, in descending order, headache, fatigue and fever, and shivering. With regard to epilepsy-related adverse effects, one patient reported increased seizure frequency one day after the first COVID-19 vaccination was administered, and one reported the occurrence of a new seizure type. None of the patients reported a status epilepticus or aggravation of preexisting adverse effects.

Conclusions: Our data suggest that vaccination against COVID-19 appears to be well tolerated in PWE, supporting the recommendation of vaccination to PWE.
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http://dx.doi.org/10.1016/j.yebeh.2021.108160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8216683PMC
June 2021

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Brain 2021 Jun 11. Epub 2021 Jun 11.

Pediatric Neurology Department, Lyon University Hospital, 69500 Bron, France.

Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy ((AD)SHE) to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies (DEE). This study aims to provide a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mutation-related epileptic disorders in 248 individuals, including 66 unpreviously published and 182 published cases, the largest cohort reported so far. Four phenotypic groups emerged from our analysis: i) EIMFS (152 individuals, 33 previously unpublished); ii) DEE other than EIMFS (non-EIMFS DEE) (37 individuals, 17 unpublished); iii) (AD)SHE (53 patients, 14 unpublished); iv) other phenotypes (6 individuals, 2 unpublished). In our cohort of 66 new cases, the most common phenotypic features were: a) in EIMFS, heterogeneity of seizure types, including epileptic spasms, epilepsy improvement over time, no epilepsy-related deaths; b) in non-EIMFS DEE, possible onset with West syndrome, occurrence of atypical absences, possible evolution to DEE with SHE features; one case of sudden unexplained death in epilepsy (SUDEP); c) in (AD)SHE, we observed a high prevalence of drug-resistance, although seizure frequency improved with age in some individuals, appearance of cognitive regression after seizure onset in all patients, no reported severe psychiatric disorders, although behavioural/psychiatric comorbidities were reported in about 50% of the patients, SUDEP in one individual; d) other phenotypes in individuals with mutation of KCNT1 included temporal lobe epilepsy, and epilepsy with tonic-clonic seizures and cognitive regression. Genotypic analysis of the whole cohort of 248 individuals showed only missense mutations and one inframe deletion in KCNT1. Although the KCNT1 mutations in affected individuals were seen to be distributed among the different domains of the KCNT1 protein, genotype-phenotype considerations showed many of the (AD)SHE-associated mutations to be clustered around the RCK2 domain in the C-terminus, distal to the NADP domain. Mutations associated with EIMFS/non-EIMFS DEE did not show a particular pattern of distribution in the KCNT1 protein. Recurrent KCNT1 mutations were seen to be associated with both severe and less severe phenotypes. Our study further defines and broadens the phenotypic and genotypic spectrums of KCNT1-related epileptic conditions and emphasizes the increasingly important role of this gene in the pathogenesis of early onset DEEs as well as in focal epilepsies, namely (AD)SHE.
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http://dx.doi.org/10.1093/brain/awab219DOI Listing
June 2021

Influence of Cage Design on Radiological and Clinical Outcomes in Dorsal Lumbar Spinal Fusions: A Comparison of Lordotic and Non-Lordotic Cages.

Orthop Surg 2021 May 24;13(3):863-875. Epub 2021 Mar 24.

University Hospital Tübingen, Tübingen, Germany.

Objectives: To evaluate the comparison between lordotic and non-lordotic transforaminal lumbar interbody fusion (TLIF) cages in degenerative lumbar spine surgery and analyze radiological as well as clinical outcome parameters in long-term follow up.

Methods: In a retrospective study design, we compared 37 patients with non-lordotic cage (NL-group) and 40 with a 5° lordotic cage (L-group) implanted mono- or bi-segmental in TLIF-technique from 2013 to 2016 and analyzed radiological parameters of pre- and postoperative (Lumbar lordosis (LL), segmental lordosis (SL), and pelvic tilt (PT), as well as clinical parameters in a follow-up physical examination using the Oswestry disability index (ODI), Roland-Morris Score (RMS), and visual analog scale (VAS).

Results: Surgery was mainly performed in lower lumbar spine with a peak in L4/5 (mono-segmental) and L4 to S1 (bi-segmental), long-term follow-up was on average 4 years postoperative. According to the literature, we found significantly better results in radiological outcome in the L-group compared to the NL-group: LL increased 6° in L-group (51° preoperative to 57° postoperative) and decreased 1° in NL-group (50° to 49° (P < 0.001). Regarding SL, we found an increase of 5° in L-group (13° to 18°) and no difference in NL-group (15°)(P < 0.001). In PT, we found a clear benefit with a decrease of 2° in L-group (21° to 19°) and no difference in NL-group (P = 0.008). In direct group comparison, ODI in NL-group was 23% vs 28% in L-group (P = 0.25), RMS in NL-group was 8 points vs 9 points in L-group (P = 0.48), and VAS was in NL-group 2.7 vs 3.2 in L-group (P = 0.27) without significant differences. However, the clinical outcome in multivariate analysis indicated a significant multivariate influence across ODI and RMS of BMI (Wilks λ = 0.57, F [4, 44] = 3.61, P = 0.012) and preoperative SS (Wilks λ = 0.66, F [4, 44] = 2.54, P = 0.048). Age, gender, cage type and postoperative PT had no significant influence (P > 0.05). Intraoperatively, we saw three dura injuries that could be sutured without problems and had no consequences for the patient. In the follow-up, we did not find any material-related problems, such as broken screws or cage loosening, also no pseudarthrosis.

Conclusion: In conclusion, we think it's not cage design but other influenceable factors such as correct indication and adequate decompression that lead to surgical success and the minimal difference in the LL therefore seemed to be of subordinate importance.
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http://dx.doi.org/10.1111/os.12872DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8126915PMC
May 2021

A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies.

Epilepsia Open 2021 03 13;6(1):160-170. Epub 2021 Jan 13.

IRCCS Mondino Foundation Pavia Italy.

Objective: Clinical care of rare and complex epilepsies is challenging, because evidence-based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The pathomechanisms of rare epilepsies are, however, increasingly understood, which potentially fosters novel targeted therapies. The objectives of our survey were to obtain an overview of the clinical practice in European tertiary epilepsy centers treating patients with 5 arbitrarily selected rare epilepsies and to get an estimate of potentially available patients for future studies.

Methods: Members of the ( were invited to participate in a web-based survey on clinical practice of patients with Dravet syndrome, tuberous sclerosis complex (TSC), autoimmune encephalitis, and progressive myoclonic epilepsies including Unverricht Lundborg and Unverricht-like diseases. A consensus-based questionnaire was generated for each disease.

Results: Twenty-six of 30 invited epilepsy centers participated. Cohorts were present in most responding centers for TSC (87%), Dravet syndrome (85%), and autoimmune encephalitis (71%). Patients with TSC and Dravet syndrome represented the largest cohorts in these centers. The antiseizure drug treatments were rather consistent across the centers especially with regard to Dravet syndrome, infantile spasms in TSC, and Unverricht Lundborg / Unverricht-like disease. Available, widely used targeted therapies included everolimus in TSC and immunosuppressive therapies in autoimmune encephalitis. Screening for comorbidities was routinely done, but specific treatment protocols were lacking in most centers.

Significance: The survey summarizes the current clinical practice for selected rare epilepsies in tertiary European epilepsy centers and demonstrates consistency as well as heterogeneity in the treatment, underscoring the need for controlled trials and recommendations. The survey also provides estimates for potential participants of clinical trials recruited via EpiCARE, emphasizing the great potential of Reference Networks for future studies to evaluate new targeted therapies and to identify novel biomarkers.
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http://dx.doi.org/10.1002/epi4.12459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918306PMC
March 2021

Does the accumulated antiepileptic drug load in chronic epilepsy reflect disease severity?

Epilepsia 2020 12 15;61(12):2685-2695. Epub 2020 Oct 15.

Department of Epileptology, University Hospital Bonn (UKB), Bonn, Germany.

Objective: To ascertain factors that are related to the antiepileptic drug load in epilepsy.

Methods: In this cross-sectional study, we analyzed a large cohort of conservatively treated patients with epilepsy (n = 1135) and a smaller homogeneous group of presurgical patients with neuropathologically confirmed unilateral hippocampal sclerosis (n = 91). Considered clinical variables comprised (1) presence of an underlying cerebral lesion, (2) onset and (3) duration of epilepsy, (4) seizure frequency, (5) generalized or focal to bilateral tonic-clonic seizures, (6) ictal impairment of awareness, and (7) a history of convulsive status epilepticus. In the presurgical sample, we additionally considered (8) the degree of pathology (hippocampal neuronal cell densities) instead of (1) presence of a cerebral lesion and (9) an overall rating of epilepsy severity (GASE scale). Drug load was quantified as (a) the number of concomitant antiepileptic drugs (AEDs) and (b) the total defined daily dose (DDD).

Results: Analyses disclosed only small correlations between clinical variables and drug load indices. In the conservatively treated cohort, the multiple regression analyses revealed that epilepsy onset, cerebral lesion, history of convulsive status epilepticus, and seizure frequency combined explained only 6%-10% of variance in drug load. Nearly the same variance (5%-8%) could be explained by duration of epilepsy alone. Degree of hippocampal pathology and the epilepsy severity ratings were not related to drug load indices.

Significance: Clinical markers of epilepsy severity were only marginally associated with drug load. Findings rather indicate that patients seem to accumulate drugs due to the chronicity of epilepsy. Overall, the drug load remained largely unexplained. The findings nevertheless call for scrutinizing multidrug therapies in patients with long-lasting epilepsies.
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http://dx.doi.org/10.1111/epi.16720DOI Listing
December 2020

Counseling of people with epilepsy via telemedicine: Experiences at a German tertiary epilepsy center during the COVID-19 pandemic.

Epilepsy Behav 2020 11 12;112:107298. Epub 2020 Aug 12.

Department of Epileptology, University of Bonn Medical Center, Germany. Electronic address:

Introduction: Driven by the challenges of alternative healthcare supply during the COVID-19 pandemic, acceptance and appreciation of telemedicine were assessed in a German tertiary epilepsy center.

Methods: Two hundred thirty-nine patients with epilepsy (53% female, 35% seizure-free, 97% on antiseizure medication) answered a structured audit on telemedical counseling as part of individual outpatients' care.

Results: Overall 82% of the participants were satisfied with the telemedical appointment. The telemedical appointment was rated equal to onsite appointments in means of time (91%), comprehensibility (94%), and opportunity to get answers to current questions (92%). It was evaluated as good as onsite appointments regarding comprehension of the disease (88%) and impact on following the physician's advice (82%). The participants considered immediate convenience and shortfall of travel expenses as advantages of telemedicine, whereas lack of personal contact and diagnostics (electroencephalogram [EEG] recordings, blood analysis) were seen as disadvantages. About 73% of the participants would appreciate the opportunity of future telemedical counseling, but the majority (75%) wished to have further appointments onsite.

Conclusions: Overall, people with epilepsy appear to be satisfied with telemedical counseling. However, patients greatly appreciate the medical services onsite and consider telemedicine as an add-on service rather than a substitute to visits onsite.
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http://dx.doi.org/10.1016/j.yebeh.2020.107298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422810PMC
November 2020

[How to Distinguish Syncope from Epileptic and Psychogenic Non-Epileptic Seizures].

Dtsch Med Wochenschr 2019 06 18;144(12):835-841. Epub 2019 Jun 18.

Transient loss of consciousness (TLOC) is a frequent cause of referral to an emergency room. In view of the impact on treatment and the patients' daily life activities (e. g. profession, driving license), an accurate and timely diagnosis is of uttermost importance. This article provides key features and suggests a practical step-by-step approach of how to differentiate syncope, epileptic and psychogenic non-epileptic seizures as the commonest causes of nontraumatic TLOC.
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http://dx.doi.org/10.1055/a-0629-0362DOI Listing
June 2019

Genotypes and phenotypes of patients with Lafora disease living in Germany.

Neurol Res Pract 2019 12;1. Epub 2019 Nov 12.

Center for Genomics and Transcriptomics (CeGaT) GmbH and Practice for Human Genetics, Tübingen, Germany.

Background: Lafora progressive myoclonus epilepsy (Lafora disease) is a rare, usually childhood-onset, fatal neurodegenerative disease caused by biallelic mutations in (Laforin) or (, Malin). The epidemiology of Lafora disease in Germany is largely unknown. The objective of this retrospective case series is to characterize the genotypes and phenotypes of patients with Lafora disease living in Germany.

Methods: The patients described in this case series initially had the suspected clinical diagnosis of Lafora disease, or unclassified progressive myoclonus epilepsy. Molecular genetic diagnostics including next generation sequencing-based diagnostic panel analysis or whole exome sequencing was performed.

Results: The parents of four out of the 11 patients are nonconsanguineous and of German origin while the other patients had consanguineous parents. Various variants were found in (six patients) and in (five patients). Eight variants have not been reported in the literature so far. The patients bearing novel variants had typical disease onset during adolescence and show classical disease courses.

Conclusions: This is the first larger case series of Lafora patients in Germany. Our data enable an approximation of the prevalence of manifest Lafora disease in Germany to 1,69 per 10 million people. Broader application of gene panel or whole-exome diagnostics helps clarifying unclassified progressive myoclonus epilepsy and establish an early diagnosis, which will be even more important as causal therapy approaches have been developed and are soon to be tested in a phase I study.
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http://dx.doi.org/10.1186/s42466-019-0040-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316188PMC
November 2019

Oxytocin enhances amygdala-dependent, socially reinforced learning and emotional empathy in humans.

J Neurosci 2010 Apr;30(14):4999-5007

Department of Psychiatry, University of Bonn, 53105 Bonn, Germany.

Oxytocin (OT) is becoming increasingly established as a prosocial neuropeptide in humans with therapeutic potential in treatment of social, cognitive, and mood disorders. However, the potential of OT as a general facilitator of human learning and empathy is unclear. The current double-blind experiments on healthy adult male volunteers investigated first whether treatment with intranasal OT enhanced learning performance on a feedback-guided item-category association task where either social (smiling and angry faces) or nonsocial (green and red lights) reinforcers were used, and second whether it increased either cognitive or emotional empathy measured by the Multifaceted Empathy Test. Further experiments investigated whether OT-sensitive behavioral components required a normal functional amygdala. Results in control groups showed that learning performance was improved when social rather than nonsocial reinforcement was used. Intranasal OT potentiated this social reinforcement advantage and greatly increased emotional, but not cognitive, empathy in response to both positive and negative valence stimuli. Interestingly, after OT treatment, emotional empathy responses in men were raised to levels similar to those found in untreated women. Two patients with selective bilateral damage to the amygdala (monozygotic twins with congenital Urbach-Wiethe disease) were impaired on both OT-sensitive aspects of these learning and empathy tasks, but performed normally on nonsocially reinforced learning and cognitive empathy. Overall these findings provide the first demonstration that OT can facilitate amygdala-dependent, socially reinforced learning and emotional empathy in men.
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http://dx.doi.org/10.1523/JNEUROSCI.5538-09.2010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6632777PMC
April 2010

Function of transmembrane domain IX in the Na+/proline transporter PutP.

J Mol Biol 2008 Oct 30;382(4):884-93. Epub 2008 Jul 30.

LMU Munich, Department Biology I, Microbiology, Grosshaderner Strasse 2-4, D-82152 Planegg-Martinsried, Germany.

Selected residues of transmembrane domain (TM) IX were previously shown to play key roles in ligand binding and transport in members of the Na(+)/solute symporter family. Using the Na(+)/proline transporter PutP as a model, a complete Cys scanning mutagenesis of TM IX (positions 324 to 351) was performed here to further investigate the functional significance of the domain. G328, S332, Q345, and L346 were newly identified as important for Na(+)-coupled proline uptake. Placement of Cys at one of these positions altered K(m(pro)) (S332C and L346C, 3- and 21-fold decreased, respectively; Q345C, 38-fold increased), K(0.5(Na+)) (S332C, 13-fold decreased; Q345C, 19-fold increased), and/or V(max) [G328C, S332C, Q345C, and L346C, 3-, 22-, 2-, and 8-fold decreased compared to PutP(wild type), respectively]. Membrane-permeant N-ethylmaleimide inhibited proline uptake into cells containing PutP with Cys at distinct positions in the middle (T341C) and cytoplasmic half of TM IX (C344, L347C, V348C, and S351C) and had little or no effect on all other single Cys PutP variants. The inhibition pattern was in agreement with the pattern of labeling with fluorescein-5-maleimide. In addition, Cys placed into the cytoplasmic half of TM IX (C344, L347C, V348C, and S351C) was protected from fluorescein-5-maleimide labeling by proline while Na(+) alone had no effect. Membrane-impermeant methanethiosulfonate ethyltrimethylammonium modified Cys in the middle (A337C and T341C) and periplasmic half (L331C) but not in the cytoplasmic half of TM IX in intact cells. Furthermore, Cys at the latter positions was partially protected by Na(+) but not by proline. Based on these results, a model is discussed according to which residues of TM IX participate in the formation of ligand-sensitive, hydrophilic cavities in the protein that may reconstitute part of the Na(+) and/or proline translocation pathway of PutP.
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http://dx.doi.org/10.1016/j.jmb.2008.07.070DOI Listing
October 2008
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