Search Results - "Borggräfe, Ingo"
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Associations of Diet and Lifestyle With Headache in High-School Students: Results From a Cross-Sectional Study
Published in Headache (01-07-2010)“…(Headache 2010;50:1104‐1114) Background.— Diet and lifestyle are seen as factors which influence headache in adults. However, population‐based studies on this…”
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Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation
Published in Neuropediatrics (01-08-2024)“…Pathogenic variants in , encoding the α chain of type IV collagen, have been associated with cerebrovascular pathology as well as malformations of cortical…”
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Published in American journal of human genetics (01-08-2019)“…Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe…”
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A Systematic Review of Seizure-Freedom Rates in Patients With Benign Epilepsy of Childhood With Centrotemporal Spikes Receiving Antiepileptic Drugs
Published in Clinical neuropharmacology (01-03-2021)“…The objective of this study was to evaluate seizure remission rates in patients with benign epilepsy of childhood with centrotemporal spikes (BECTS) receiving…”
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Genetic predisposition in anti‐LGI1 and anti‐NMDA receptor encephalitis
Published in Annals of neurology (01-04-2018)“…We performed a genome‐wide association study in 1,194 controls and 150 patients with anti‐N‐methyl‐D‐aspartate receptor (anti‐NMDAR, n = 96) or…”
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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
Published in American journal of human genetics (03-06-2021)“…Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of…”
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Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia
Published in Nephron (2015) (01-02-2020)“…Autosomal-dominant tubulointerstitial kidney disease -(ADTKD) describes tubulointerstitial kidney disease with autosomal-dominant inheritance. In 2017, the…”
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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Published in Nature neuroscience (01-10-2024)“…Identifying genetic risk factors for highly heterogeneous disorders such as epilepsy remains challenging. Here we present, to our knowledge, the largest…”
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The remains of the day: A working day in a university children's hospital
Published in Zeitschrift für Evidenz, Fortbildung und Qualität im Gesundheitswesen (01-11-2016)“…Limited time available for direct patient contact and a lot of time required for administrative duties have been reported by physicians working in adult…”
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Chewing induced reflex seizures (“eating epilepsy”) and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases
Published in Seizure (London, England) (01-02-2019)“…•Chewing induced reflex seizures seem to be common in pediatric SYNGAP1 patients.•Ictal EEG points to the posterior cortex as hub for chewing induced reflex…”
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Associations between stress and migraine and tension-type headache: results from a school-based study in adolescents from grammar schools in Germany
Published in Cephalalgia (01-05-2011)“…Stress is considered the major contributor to migraine and tension-type headache in adolescents. Previous studies have focused on general stressors, whereas…”
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Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations
Published in Epilepsia (Copenhagen) (01-07-2021)“…Objective Paroxysmal epileptiform abnormalities on electroencephalography (EEG) are the hallmark of epilepsies, but it is uncertain to what extent epilepsy and…”
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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
Published in American journal of human genetics (07-10-2021)Get full text
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The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood
Published in Biomedicines (28-10-2020)“…Pathogenic variants in PRRT2, encoding the proline-rich transmembrane protein 2, have been associated with an evolving spectrum of paroxysmal neurologic…”
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Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2 -Associated Infantile Epilepsy
Published in Neurology. Genetics (01-10-2022)“…Background and ObjectivesPathogenic variants in PRRT2, encoding for the proline-rich transmembrane protein 2, were identified as the main cause of…”
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Therapie des akuten epileptischen Anfalls beim Kind im Notfall
Published in Notfall & Rettungsmedizin (01-02-2021)“…Zusammenfassung Epileptische Anfälle gehören präklinisch zu den häufigsten Notfällen in der Pädiatrie. Meist enden sie spontan; eine akute Medikamentengabe ist…”
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Distinct gene-set burden patterns underlie common generalized and focal epilepsies
Published in EBioMedicine (01-10-2021)“…Analyses of few gene-sets in epilepsy showed a potential to unravel key disease associations. We set out to investigate the burden of ultra-rare variants…”
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Symptom patterns in childhood arterial ischemic stroke: Analysis of a population-based study in Germany
Published in Klinische Padiatrie (01-10-2018)“…Die zeitliche Verzögerung zwischen Symptombeginn und Diagnose ist eine Herausforderung in der Behandlung von Kindern mit arteriell ischämischem Schlaganfall…”
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Gentherapien bei monogenen Erkrankungen: Welche seltenen Erbleiden sich heute bereits behandeln lassen
Published in Pädiatrie : Kinder- und Jugendmedizin hautnah (01-02-2024)Get full text
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