Thomas Bast
A5060150673- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Metabolism and Genetic Disorders
- Neuroscience and Neuropharmacology Research
- EEG and Brain-Computer Interfaces
- Neonatal and fetal brain pathology
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Fetal and Pediatric Neurological Disorders
- Diet and metabolism studies
- Functional Brain Connectivity Studies
- Glioma Diagnosis and Treatment
- Tuberous Sclerosis Complex Research
- Ion Transport and Channel Regulation
- Ion channel regulation and function
- Neural dynamics and brain function
- Neurological disorders and treatments
- Amino Acid Enzymes and Metabolism
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
- Drug Transport and Resistance Mechanisms
- Pharmaceutical studies and practices
- Neonatal Health and Biochemistry
- Infectious Encephalopathies and Encephalitis
- Sleep and Wakefulness Research
Diakonie Kork
2016-2025
University of Freiburg
2018-2023
Heidelberg University
2010-2022
University Hospital Heidelberg
2010-2022
Goethe University Frankfurt
2018-2021
University Medical Center Freiburg
2017-2021
University of Lübeck
2018
University Hospital Schleswig-Holstein
2018
Hopp Children's Cancer Center Heidelberg
2015
Stanford University
2014
Detailed neuropathological information on the structural brain lesions underlying seizures is valuable for understanding drug-resistant focal epilepsy.We report diagnoses made basis of resected specimens from 9523 patients who underwent epilepsy surgery in 36 centers 12 European countries over 25 years. Histopathological were determined through examination local hospitals (41%) or at German Neuropathology Reference Center Epilepsy Surgery (59%).The onset occurred before 18 years age 75.9%...
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with spectrum of epilepsies and neurodevelopmental disorders. Here, we report phenotypes 71 patients review 130 previously reported patients. We found that (i) encephalopathies infantile/childhood onset (≥3 months age) occur almost as often those an early infantile (<3 months), are thus more frequent than reported; (ii) distinct can be seen within late group, including myoclonic-atonic epilepsy...
The epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report genome-wide mega-analysis involving 15,212 individuals with epilepsy 29,677 controls, which reveals 16 significant loci, of 11 are novel. Using various prioritization criteria, we pinpoint the 21 most likely genes at these majority in genetic generalized epilepsies. These diverse biological functions, including coding for ion-channel subunits, transcription factors...
Benign familial infantile seizures (BFIS), paroxysmal kinesigenic dyskinesia (PKD), and their combination-known as convulsions choreoathetosis (ICCA)-are related autosomal dominant diseases. PRRT2 (proline-rich transmembrane protein 2 gene) has been identified the major gene in all 3 conditions, found to be mutated 80 90% of 30 35% sporadic cases.We searched for genetic defect PRRT2-negative, unrelated families with BFIS or ICCA using whole exome targeted panel sequencing, performed a...
The purpose of this study was to assess whether the histological subtype focal cortical dysplasia and dual pathology affect surgical outcome in patients with medically intractable epilepsy due (FCD). We retrospectively analysed 67 from 2 66 years age at follow-up periods 6 48 months after surgery. Histological subtypes were classified according Palmini included a few cases mild abnormalities corresponding definition malformations development. seizure Engel evaluated last visit as well 12 24...
Focal cortical dysplasias (FCDs) are increasingly diagnosed as a cause of symptomatic focal epilepsy in paediatric and adult patients. However, little is known about the clinical characteristics these In order to elucidate their epilepsy, 120 pharmacoresistant patients including children adults with histologically proven FCD were studied retrospectively. Age at seizure onset was analysed total group compared between subgroups different localization histological subtypes FCD. The role febrile...
Summary: Purpose: Simultaneous interictal EEG and magnetoencephalography (MEG) recordings were used for noninvasive analysis of epileptogenicity in focal cortical dysplasia (FCD). The results two different approach methods (multiple source averaged spikes single dipole peak localization spikes) compared with pre‐ postoperative anatomic magnetic resonance imaging (MRI). Patients: We studied nine children adolescents (age, 3.5–15.9 years) localization‐related epilepsy FCD diagnosis based on...
Focal cortical dysplasia (FCD) is currently recognized as the most common cause of neocortical pharmacoresistant epilepsy. Epilepsy surgery has become an increasingly successful treatment option. Herein, largest patient cohort reported to date analyzed regarding long-term outcome and factors relevant for seizure control.Two hundred eleven children adults undergoing epilepsy histologically proven FCD a follow-up period 2-12 years were longitudinal course control, effects type, localization,...
<h3>Objective</h3> Limbic encephalitis is rare in people <18 years of age and rarely given a formal diagnosis. <h3>Design</h3> Retrospective study on presentation outcome children adolescents with the clinico-radiological syndrome limbic tested for specific neuronal autoantibodies (Abs) over 3.5 years. <h3>Setting</h3> Assessment, diagnosis, treatment follow-up at 12 neuropaediatric neurological departments Europe, Abs determined Bonn, Germany Oxford, UK. <h3>Patients</h3> Ten patients...
Summary Purpose: Rasmussen encephalitis (RE) leads to progressive tissue and function loss of one brain hemisphere often intractable epilepsy. This is the first randomized prospective treatment trial in RE. Methods: Germany‐wide, patients with suspected recent‐onset RE were recruited if eligible tacrolimus or intravenous immunoglobulins (IVIGs). A motor hemispheric volume by ≥15% (in >12 years at disease onset: ≥8%) led study exit. Untreated served as a historical control group. Key...
Summary Purpose: Refractory convulsive status epilepticus in infancy and childhood is a rare emergency situation. Metabolic disorders frequently underlie this condition, particular Alpers' disease caused by POLG1 mutations. Status may be the first symptom. A pathognomonic electroencephalography (EEG) signature facilitate diagnosis of allow timely avoidance valproic acid, which contraindicated disorder because it trigger fatal liver failure. Patients: We present five patients with mutations ....
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...
Objective Antiepileptic drugs (AEDs) have cognitive side effects that, particularly in children, may affect intellectual functioning. With the TimeToStop (TTS) study, we showed that timing of AED withdrawal does not majorly influence long‐term seizure outcomes. We now aimed to evaluate effect on postoperative intelligence quotient (IQ), and change IQ (delta IQ) following pediatric epilepsy surgery. Methods collected scores children from TTS cohort with both pre‐ neuropsychological...
The definition of minimal standards remains pivotal as a basis for high standard care and staff allocation or reimbursement. Only limited publications are available regarding the required staffing methodologic expertise in epilepsy centers. executive board working group (WG) on presurgical diagnosis operative treatment published first guidelines 2000 Austria, Germany, Switzerland. In 2014, revised were WG decided to publish an unaltered English translation this report. Because surgery is...
<b>Objective</b> This article aims to report the first clinical experiences concerning effectiveness and tolerability of perampanel (PER) in a pediatric population with refractory epilepsies. <b>Patients Methods</b> nonsponsored, observational, retrospective survey was conducted through collaboration multiple centers Europe. The course patients treated these PER documented help questionnaire completed by treating physicians. Effectiveness adverse effects were evaluated. study consisted 58...
Although the majority of children undergoing epilepsy surgery are younger than 3 yr at manifestation, only few actually receive surgical treatment in early childhood. Past studies have, however, suggested that earlier intervention may correlate with superior developmental outcomes.To identify predictors for long-term seizure freedom and cognitive development following first life determine appropriate timing this age group.We retrospectively analyzed data 48 consecutive aged 1.1 ± 0.7...
4-Aminopyridine is a potential therapeutic option for subgroup of patients with KCNA2 -encephalopathy and gain-of-function variants.
Abstract Objective Cannabidiol (CBD) is approved for treatment of Dravet syndrome (DS), Lennox‐Gastaut (LGS), and tuberous sclerosis complex (TSC). Several studies suggest antiseizure effects also beyond these three epilepsy syndromes. Methods In a retrospective multicenter study, we analyzed the efficacy tolerability CBD in patients with at 16 centers. Results The study cohort comprised 311 median age 11.3 (0‐72) years (235 children adolescents, 76 adults). Therapy was off‐label 91.3% cases...
When evaluating interictal spikes using dipole source analysis it is important to account for multiple sources and the overlapping background EEG. Analyses of spike peaks may be modeling only propagated sources. Careful filtering averaged data can provide useful information about onset epileptiform activity. A forward high-pass filter help enhance initial activity during over These points are illustrated with examples a temporal, parietal, frontal spike. Multiple was applied genetic...