PDF herunterladen
Neuropediatrics 2025; 56(02): 067-068
DOI: 10.1055/a-2536-9554
Editorial

Advancing Precision Therapies in Neurogenetic Disorders and the Treatment of Medically Refractory Epilepsies

Ingo Borggraefe
1   Division of Pediatric Neurology, Department of Pediatrics, Developmental Medicine and Social Pediatrics, Ludwig Maximilian University Munich, Dr. von Hauner Children's Hospital, University Hospital, Munich, Germany
2   Comprehensive Epilepsy Center for Children and Adolescents, Ludwig Maximilians University Munich, University Hospital, Munich, Germany
,
Saskia Wortmann
3   University Children's Hospital Salzburg, Paracelsus Medical University (PMU), Salzburg, Austria
› Institutsangaben
› Weitere Informationen
Auch verfügbar auf
    Lizenzen und Reprints

Introducing Remarks

We would like to express our great gratitude to Professor Linda de Vries. In the past two decades, Professor de Vries supported the journal, from submitting as an author to becoming an exceptional reviewer and advancing to the role of associate editor ensuring the highest-quality peer review in the journal.

We are now happy though to introduce Dr. Damjan Osredkar as a new associate editor of Neuropediatrics. Since 2015 Dr. Osredkar is heading the Pediatric Neurology Department at the University Children's Hospital Lubljana (UMCL), Slovenia. In addition to his clinical responsibilities, his primary research interests lie in the development of precision-medicine treatment options for rare diseases, such as the development of gene-addition therapy for the CTNNB1-neurodevelopmental syndrome. Damjan started his research—leading to a thesis—on the follow-up of newborns after hypoxic-ischemic encephalopathy (HIE) at Wilhemina Children's Hospital in Utrecht (The Netherlands, supervisors Prof. David Neubauer and Prof. Linda de Vries) and proceeded to research in the field of treatment of HIE at the universities of California San Francisco (USA, Prof. Donna Ferriero) and Oslo (Norway, Prof. Marianne Thoresen).



Publikationsverlauf

Artikel online veröffentlicht:
07. März 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany

 

  • References

  • 1 Osborne JP, Edwards SW, Dietrich Alber F. et al; participating investigators. The underlying etiology of infantile spasms (West syndrome): information from the International Collaborative Infantile Spasms Study (ICISS). Epilepsia 2019; 60 (09) 1861-1869
    CrossrefPubMedSuche in Google Scholar
  • 2 O'Callaghan FJ, Edwards SW, Alber FD. et al; participating investigators. Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial. Lancet Neurol 2017; 16 (01) 33-42
    CrossrefPubMedSuche in Google Scholar
  • 3 Ramantani G, Bölsterli BK, Alber M. et al. Treatment of infantile spasm syndrome: update from the Interdisciplinary Guideline Committee coordinated by the German-Speaking Society of Neuropediatrics. Neuropediatrics 2022; 53 (06) 389-401
    Thieme ConnectPubMedSuche in Google Scholar
  • 4 Schulz A, Specchio N, de Los Reyes E. et al. Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study. Lancet Neurol 2024; 23 (01) 60-70
    CrossrefPubMedSuche in Google Scholar
  • 5 Roth J, Constantini S, Ekstein M. et al. Epilepsy surgery in infants up to 3 months of age: safety, feasibility, and outcomes: a multicenter, multinational study. Epilepsia 2021; 62 (08) 1897-1906
    CrossrefPubMedSuche in Google Scholar
  • 6 Makridis KL, Klotz KA, Ramantani G. et al. Epilepsy surgery in early infancy: a retrospective, multicenter study. Epilepsia Open 2023; 8 (03) 1182-1189
    CrossrefPubMedSuche in Google Scholar