Research & Innovation
Publications

A novel GABRG2 variant in Sunflower syndrome: A case report and video EEG monitoring.

#2023

#EPILEPTIC DISORDERS

PMU Author
Kirsten Eschermann

All Authors
Jo Sourbron, Renee Proost, Katrien Jansen, Antonella Riva, Kirsten Eschermann, James Richard Barnett, Lieven Lagae

Journal association
EPILEPTIC DISORDERS

Abstract

Keywords

Humans, Male, CHILD, Anticonvulsants/therapeutic use, Electroencephalography/methods, Epilepsy, Reflex/diagnosis, Helianthus/genetics, Receptors, GABA-A, Seizures/diagnosis, Syndrome, Valproic Acid/therapeutic use

Latest Publication

#2025

#Review article

Kathrin Julia Pann, Verena-Katrin Buchner, Roland Eßl-Maurer, Tobias Bacher, Manela Glarcher, Andre Ewers International competencies of nurses with advanced practice in anesthesia nursing

#2025

#Original Article

Kathrin Julia Pann, Verena-Katrin Buchner, Roland Essl-Maurer, Tobias Bacher, Manela Glarcher, Andre Ewers International competencies of nurses with advanced practice in anesthesia nursing, Advanced practice nursing; Advanced practice registered nurses; Anesthesia nursing; Clinical competence; Literature review; Nurse anesthetists; Scope of practice;

#2025

#Original Article

Emanuele Bernardinelli, Rapolas Jamontas, Arnoldas Matulevičius, Florian Huber, Houssein Nasser, Sophie Klaus, Haixia Zhu, Jiangang Gao, Silvia Dossena Inhibitors of the ubiquitin‑proteasome system rescue cellular levels and ion transport function of pathogenic pendrin (SLC26A4) protein variants, Humans; Animals; MICE; HEK293 Cells; MUTATION; Proteasome Endopeptidase Complex/metabolism; Sulfate Transporters/metabolism; Ion Transport/drug effects; Proteasome Inhibitors/pharmacology; Ubiquitin/metabolism; Hearing Loss, Sensorineural/metabolism; Goiter, Nodular/metabolism; Proteolysis/drug effects;

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Paracelsus Medical University (PMU) Research & Innovation Publications

A novel GABRG2 variant in Sunflower syndrome: A...