Ulrich Stephani
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View article: Preliminary Evidence for a Western Blot Diagnosis of Satoyoshi Syndrome Using SH-SY5Y Neuroblastoma Cell Lysate as the Antigen Source
Preliminary Evidence for a Western Blot Diagnosis of Satoyoshi Syndrome Using SH-SY5Y Neuroblastoma Cell Lysate as the Antigen Source Open
Background/Objectives: Satoyoshi syndrome is a rare, autoimmune disorder currently diagnosed based on clinical criteria: painful muscle spasms, diarrhea, and alopecia. Two previous reports showed a specific immunoreactive band in three Sat…
View article: Kortikosteroide und adrenocorticotropes Hormon bei Epilepsien der frühen Kindheit jenseits des Säuglingsalters
Kortikosteroide und adrenocorticotropes Hormon bei Epilepsien der frühen Kindheit jenseits des Säuglingsalters Open
Zusammenfassung In diesem Bericht fassen wir die Ergebnisse eines systematischen Reviews (SR) zusammen, in dem Daten zur Wirksamkeit und Verträglichkeit von ACTH (adrenocorticotropes Hormon) und Kortikosteroiden (KST) bei Kindern mit ander…
View article: Efficacy and safety of corticosteroids and ACTH in epileptic syndromes beyond Infantile Epileptic Spasms Syndrome (IESS): A systematic review and meta‐analysis
Efficacy and safety of corticosteroids and ACTH in epileptic syndromes beyond Infantile Epileptic Spasms Syndrome (IESS): A systematic review and meta‐analysis Open
We conducted a systematic review investigating the efficacy and tolerability of adrenocorticotropic hormone (ACTH) and corticosteroids in children with epilepsies other than infantile epileptic spasm syndrome (IESS) that are resistant to a…
View article: In memoriam Prof. Dr. med. Klaus-Peter Jünemann(1956–2023)
In memoriam Prof. Dr. med. Klaus-Peter Jünemann(1956–2023) Open
Nachruf auf den ehemaligen Professor für Urologie und Kinderurologie und Klinikdirektor am Universitätsklinikum Schleswig-Holstein (UKSH), Klaus-Peter Jünemann, der Ende August 2023 starb.
View article: Neuronal networks underlying ictal and subclinical discharges in childhood absence epilepsy
Neuronal networks underlying ictal and subclinical discharges in childhood absence epilepsy Open
View article: Intrathecal application of ethosuximide is highly efficient in suppressing seizures in a genetic model of absence epilepsy
Intrathecal application of ethosuximide is highly efficient in suppressing seizures in a genetic model of absence epilepsy Open
Systemic drug application is the main approach in epilepsy treatment. However, the central nervous system (CNS) is a challenging target for drug delivery as the blood-brain barrier (BBB) restricts the transfer of drugs into the brain. Acco…
View article: Erweiterte Zusammenfassung des Vortrags Die Ökonomie im Pandemie-Lockdown von Gabriel Felbermayr
Erweiterte Zusammenfassung des Vortrags Die Ökonomie im Pandemie-Lockdown von Gabriel Felbermayr Open
Bericht über den Vortrag Gabriel Felbermayrs, der als Präsident des Kiel Instituts für Weltwirtschaft im Rahmen der Ringvorlesung Die Coronavirus-Pandemie und ihre Folgen II der Christian-Albrechts-Universität zu Kiel über die ökonomischen…
View article: Zusammenfassung des Vortrags Rehabilitationen nach Corona-Virus-Erkrankungen : Besonderheiten und Wirksamkeit von Jördis Frommhold
Zusammenfassung des Vortrags Rehabilitationen nach Corona-Virus-Erkrankungen : Besonderheiten und Wirksamkeit von Jördis Frommhold Open
Bericht über den Vortrag Jördis Frommholds, die im Rahmen der Ringvorlesung Die Coronavirus-Pandemie und ihre Folgen II der Christian-Albrechts-Universität zu Kiel über Rehabilitationserfahrungen und -Erkenntnisse aus Ihrer Arbeit mit Pati…
View article: Die Coronavirus-Pandemie und ihre Folgen
Die Coronavirus-Pandemie und ihre Folgen Open
Der Sammelband basiert auf einer gleichnamigen digitalen Ringvorlesung, die im Wintersemester 2020/2021 und Sommersemester 2021 an der Christian-Albrechts-Universität zu Kiel stattfand. In 16 Beiträgen und drei Vortragszusammenfassungen äu…
View article: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals Open
View article: Distinct gene-set burden patterns underlie common generalized and focal epilepsies
Distinct gene-set burden patterns underlie common generalized and focal epilepsies Open
View article: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals Open
View article: Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness Open
Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusi…
View article: Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects Open
Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer most epilepsy risk and which epilepsy subtypes carry the most CNV bu…
View article: Neurogeriatrics—a vision for improved care and research for geriatric patients with predominating neurological disabilities
Neurogeriatrics—a vision for improved care and research for geriatric patients with predominating neurological disabilities Open
Geriatric medicine is a rapidly evolving field that addresses diagnostic, therapeutic and care aspects of older adults. Some disabilities and disorders affecting cognition (e.g. dementia), motor function (e.g. stroke, Parkinson’s disease, …
View article: Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens
Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens Open
ClinicalTrials.gov identifier: NCT02926898.
View article: Orphan drugs und seltene Epilepsien
Orphan drugs und seltene Epilepsien Open
View article: Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals Open
View article: A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany
A multicenter, matched case‐control analysis comparing burden‐of‐illness in Dravet syndrome to refractory epilepsy and seizure remission in patients and caregivers in Germany Open
Objective To compare direct and indirect costs and quality of life (QoL) of pediatric and adult patients with Dravet syndrome ( DS ), with drug‐resistant epilepsy ( DRE ) and in seizure remission ( SR ), and their caregivers, in Germany. M…
View article: A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy Open
View article: Linking pre-existing biorepositories for medical research: the PopGen 2.0 Network
Linking pre-existing biorepositories for medical research: the PopGen 2.0 Network Open
View article: Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish Open
View article: Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals Open
Sequencing-based studies have identified novel risk genes for rare, severe epilepsies and revealed a role of rare deleterious variation in common epilepsies. To identify the shared and distinct ultra-rare genetic risk factors for rare and …
View article: PB15. Neurophysiological biomarker for the clinical development of tuberous sclerosis
PB15. Neurophysiological biomarker for the clinical development of tuberous sclerosis Open
View article: Multifocal epilepsy in children is associated with increased long-distance functional connectivity: An explorative EEG-fMRI study
Multifocal epilepsy in children is associated with increased long-distance functional connectivity: An explorative EEG-fMRI study Open
View article: Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood Open
View article: Mutant Plasticity Related Gene 1 (<i>PRG1</i>) acts as a potential modifier in<i>SCN1A</i>related epilepsy
Mutant Plasticity Related Gene 1 (<i>PRG1</i>) acts as a potential modifier in<i>SCN1A</i>related epilepsy Open
Plasticity related gene 1 encodes a cerebral neuron-specific synaptic transmembrane protein that modulates hippocampal excitatory transmission on glutamatergic neurons. In mice, homozygous Prg1-deficiency results in juvenile epilepsy. Scre…
View article: Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial Open
Both Sulthiame and Levetiracetam influence the EEG of children with BECTS. Persistent EEG pathologies are associated with treatment failures.
View article: DNM1 encephalopathy:A new disease of vesicle fission
DNM1 encephalopathy:A new disease of vesicle fission Open
OBJECTIVE: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on struc…
View article: In response: Neuronal networks in epileptic encephalopathies with <scp>CSWS</scp>
In response: Neuronal networks in epileptic encephalopathies with <span>CSWS</span> Open
In his commentary of our article1 Prof. Péter Halász points out an important issue of the nature of epileptiform discharges during electrical status epilepticus in sleep (ESES) and offers a thorough review of the topic. Furthermore, due to…