European Journal of Paediatric Neurology

• Gene therapy in neuronopathic lysosomal storage disorders

  Publication date: July 2025

  Source: European Journal of Paediatric Neurology, Volume 57

  Author(s): A. Donald, C. Horgan, M.J. De Castro Lopez, S.A. Jones, R.F. Wynn

• Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center study

  Publication date: July 2025

  Source: European Journal of Paediatric Neurology, Volume 57

  Author(s): Vito Luigi Colona, Lorena Travaglini, Jacopo Sartorelli, Gessica Vasco, Anna Piluso, Adele D'Amico, Antonio Novelli, Enrico Bertini, Francesco Nicita

• Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy

  Publication date: July 2025

  Source: European Journal of Paediatric Neurology, Volume 57

  Author(s): Daphne H. Schoenmakers, Marije A.B.C. Asbreuk, Tamara Martin, Mareen Datema, Shanice Beerepoot, Michal Inbar-Feigenberg, Samuel Groeschel, Christiane Kehrer, Andreas Øberg, Caroline Sevin, Francesca Fumagalli, Caroline G. Bergner, Päivi Vieira, Annette Bley, Johanna Uusimaa, Morten Andreas Horn, Klára Brožová, Eva Stögmann, Herbert Pichler, Roswitha Lüftinger

• Effects of motor imagery adding to physiotherapy and rehabilitation program in children with Duchenne Muscular Dystrophy: does it make a difference?

  Publication date: July 2025

  Source: European Journal of Paediatric Neurology, Volume 57

  Author(s): Gülsena Utku Umut, Arzu Razak Özdi̇nçler, Fitnat Uluğ, Serhat Güler, Sema Saltık

• The utility of creatine kinase in status dystonicus and pre-status dystonicus

  Publication date: July 2025

  Source: European Journal of Paediatric Neurology, Volume 57

  Author(s): Daniel E. Lumsden, Apostolos Papandreou, Nicholas M. Allen, Jean-Piere Lin

• Neurological involvement in 51 cystinosis patients: A single-center experience

  Publication date: July 2025

  Source: European Journal of Paediatric Neurology, Volume 57

  Author(s): Ezgi Burgac, Sonay Duran Yılmaz, Fatma Derya Bulut, Deniz Kor, Esra Kara, Burcu Köseci, İrem Kaplan, Gülşah Seydaoğlu, Gülen Gül Mert, Neslihan Önenli Mungan

• Is late diagnosis of Duchenne muscular dystrophy still a reality?

  Publication date: July 2025

  Source: European Journal of Paediatric Neurology, Volume 57

  Author(s): Michele Michelin Beckerq, Juliana Gurgel-Giannetti, Alexandra Prufer de Queiroz Campos Araujo, Marcela Câmara Machado Costa, Têmis Maria Félix, Cláudia Fernandes Lorea, Adriana Banzzatto Ortega, Michelle Silva Zeny, Thayne Woycinck Kowalski, Pablo Brea Winckler, Leonardo Simão Medeiros, Clara Catharino Pinhati, Ana Carolina Monteiro Lessa de Moura, Jonas Alex Morales Saute, Flávia Nardes

• Clinical presentation, MR imaging and outcome in children with myelin oligodendrocyte glycoprotein antibody-negative acute disseminated encephalomyelitis

  Publication date: July 2025

  Source: European Journal of Paediatric Neurology, Volume 57

  Author(s): M. Panagi, A. Blaschek, A. Selek, M. Baumann, R. Cleaveland, A. Panzer, C. Conrad, A. Della Marina, K. Egler, J. Finsterwalder, T. Geis, H. Hartmann, M. Häusler, P. Hofstetter, M. Karenfort, G. Kluger, S. Leiz, A. Merkenschlager, M. Nosadini, S. Sartori

• Acute seizures and the risk of post-stroke epilepsy in children with arterial ischemic stroke

  Publication date: July 2025

  Source: European Journal of Paediatric Neurology, Volume 57

  Author(s): Andrea Rüegger, Eliane Pfister, Regula Everts, Tatia Aprasidze, Arsany Hakim, Gabriela Oesch, Mária Regényi, Maja Steinlin, Iciar Sanchez-Albisua

• Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals

  Publication date: July 2025

  Source: European Journal of Paediatric Neurology, Volume 57

  Author(s): Caroline Rey, Laetitia Giorgi, Hélène Maurey, Anne-Lise Poulat, Daniel Amsallem, Anne Lepine, Stéphane Auvin, Renaldo Florence, Juliette Ropars, Emmanuel Cheuret, Sarah Baer, Jean-Marc Pinard, Anne Rolland, Pierre-Louis Leger, Sylvie Nguyen The Tich, Pierre Castelnau, Pierre Meyer, Sylvain Renolleau, Diana Rodriguez, Frederic Villega

• Quantitative assessment of muscle atrophy and structural changes in children with spinal muscular atrophy using ultrasound imaging

  Publication date: July 2025

  Source: European Journal of Paediatric Neurology, Volume 57

  Author(s): Yang Li, Li Gao, Meihuan Huang, Yujuan Wang, Jianguo Cao, Feiqiu Wen, Wenwu Xiao, Qing Liu

• Hepatocellular carcinoma in two unrelated patients with PNPO deficiency Epilepsy: A risk of long-term pyridoxal-5′-phosphate therapy?

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): Paola De Liso, Richard Webster, Barbara Plecko, Federico Vigevano

• Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): Ulrike Mütze, Svenja Scharré, Elena Schnabel-Besson, Oya Kuseyri Hübschmann, Friederike Höster, Ali Tunҫ Tuncel, Stefan Kölker, Thomas Opladen

• Treatment of leukodystrophies: Advances and challenges

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): Nicole I. Wolf, Marjo S. van der Knaap, Marc Engelen

• Update on inherited disorders of GABA metabolism

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): Itay Tokatly Latzer, Phillip L. Pearl

• Disruptive lesions can cause developmental anomalies in the fetal brain: Mini-review

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): Michal Gafner, Efrat Hadi, Leila Haddad, Liat Gindes, William B Dobyns, Tally Lerman-Sagie

• Quality of life in young adolescents with epilepsy: A case control study

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): J. Idowu, C. Meades, J.H. Cross, A. Muggeridge, M. Lakhanpaul, K. Robinson, L.B. Sherar, N. Pearson, C. Reilly

• Education and participation in children and adolescents with Duchenne muscular dystrophy in Switzerland

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): Bettina C. Henzi, Dominique Baumann, Eleftheria Michalopoulou, Sarah J. Erni, Leonie Steiner, Nadine Lötscher, Anne Tscherter, Andrea Klein, Berenice Bubl, Andrea Capone, Cornelia Enzmann, Joel Fluss, Oswald Hasselmann, David Jacquier, Hans H. Jung, Petra Kolditz, Claudia E. Kuehni, Christoph Neuwirth, Gian P. Ramelli, Paolo Ripellino

• Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): R. van Heurck, E.B. Hammar, D. Ville, S. Lebon, N. Chatron, C. Marconi, B. Royer-Bertrand, G. Lesca, A. Superti-Furga, M. Abramowicz, C. Korff

• Approach to childhood tremors: Insights from a pediatric neurologist

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): Pinar Ozbudak, Elif Perihan Oncel, Canan Ustun, Deniz Menderes, Deniz Yuksel

• Pediatric new-onset super-refractory status epilepticus (NOSRSE): a case-series

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): Hyungjin Chin, Soo Yeon Kim, Byung Chan Lim, Jong Hee Chae, Ki Joong Kim, Jae So Cho, Anna Cho, Hunmin Kim, Woo Joong Kim

• Brain morphometry and psychomotor development in children with PCH2A

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): Pablo Pretzel, Antonia Herrmann, Alice Kuhn, Anna-Lena Klauser, Julia Matilainen, Elias Kellner, Maren Hackenberg, Simone Mayer, Lucia Laugwitz, Markus Uhl, Samuel Groeschel, Wibke G. Janzarik

• Seizures in preterm infants with germinal-matrix-intraventricular hemorrhage (GM-IVH): a retrospective monocentric study on predictors and neurodevelopmental outcome

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): Stephanie C. Schüssler, Anna Paul, Undine Niederreiter, Ludger Deiters, Fabian B. Fahlbusch, Patrick Morhart, Regina Trollmann

• The role of cardiovascular response as a predictor of neurologic disability in children with brain injury – a pilot study

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): Marta João Silva, Hernâni Gonçalves, Rute Almeida, Claúdia Camila Dias, Ana Isabel Almeida, Ana Paula Rocha, Cristina Granja, Maria João Baptista, Inês Azevedo

• Towards new perspectives: International consensus guidance on dystonia in pediatric palliative care

  Publication date: May 2025

  Source: European Journal of Paediatric Neurology, Volume 56

  Author(s): Anna Mercante, Nardo Nardocci, Emilio Fernández-Alvarez, Daniel E. Lumsden, Julie Hauer, Mercedes Bernadá, Ross Drake, Ulrika Kreicbergs, Rocío Palomo-Carrión, Marco Gemma, Philippe Coubes, Alfonso Fasano, Jean-Pierre Lin, Franca Benini, Pediatric Dystonia and Palliative Care Group and the European Paediatric Neurology Society (EPNS)