European Journal of Paediatric Neurology This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Paediatric optic neuritis: Are we seeing things clearer now?
Eur J Paediatr Neurol. 2024 Apr 6:S1090-3798(24)00042-4. doi: 10.1016/j.ejpn.2024.04.004. Online ahead of print.NO ABSTRACTPMID:38600016 | DOI:10.1016/j.ejpn.2024.04.004 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 10, 2024 Category: Neurology Authors: Joshua Paul Harvey Ming Lim Source Type: research

Utilizing real-world evidence to investigate treatments in alternating hemiplegia of childhood: Implications for future trials in rare disease
Eur J Paediatr Neurol. 2024 Apr 6:S1090-3798(24)00040-0. doi: 10.1016/j.ejpn.2024.04.002. Online ahead of print.NO ABSTRACTPMID:38600015 | DOI:10.1016/j.ejpn.2024.04.002 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 10, 2024 Category: Neurology Authors: St éphane Auvin Source Type: research

Mitochondrial encephalopathies and myopathies: Our tertiary center's experience
We report our center's experience with mitochondrial encephalopathies and myopathies with a cohort of 50 genetically and phenotypically diverse patients followed in the Neurology clinic over the last ten years. Seventeen patients had mitochondrial DNA mutations, presented over a wide range of ages with seizures, feeding difficulties, extraocular movements abnormalities, and had high rates of stroke-like episodes and regression. Twenty-seven patients had nuclear DNA mutations, presented early in life with feeding difficulty, failure-to-thrive, and seizures, and had high proportions of developmental delay, wheelchair depende...
Source: European Journal of Paediatric Neurology - April 7, 2024 Category: Neurology Authors: Can Ozlu Souad Messahel Berge Minassian Saima Kayani Source Type: research

Phase IV PROVE study: Perampanel in real-world clinical care of pediatric patients with epilepsy
CONCLUSIONS: Perampanel was generally well tolerated with <21% of TEAEs leading to withdrawal at 24 months, had favorable retention rates (≥50% and >35% at 12 and 24 months, respectively), and sustained efficacy in pediatric patients during routine clinical care.PMID:38569352 | DOI:10.1016/j.ejpn.2024.02.008 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 3, 2024 Category: Neurology Authors: Katherine Moretz James Wheless Cesar Santos Eric Segal Marcelo Lancman Anna Patten Manoj Malhotra Source Type: research

Genetic causes of infection induced encephalitis
CONCLUSION: A case of both DBR1 and NUP214 genetic changes resulting in infection induced encephalitis is presented. This case series raises awareness of this rare group of disorders and provides clues to their identification. Features to prompt clinician consideration of such genetic conditions are also highlighted. Although rare, identification of these patients is important due to implications on treatment, prognosis, and family planning.PMID:38564873 | DOI:10.1016/j.ejpn.2024.03.004 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - April 2, 2024 Category: Neurology Authors: Olivia-Paris Quinn Peter McNaughton Nolette Pereira Kate Riney Source Type: research

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
This study aims to establish consensus among international experts in MLD and patient advocates on clinical management for NBS-identified MLD cases.METHODS: A real-time Delphi procedure using eDELPHI software with 22 experts in MLD was performed. Questions, based on a literature review and workshops, were answered during a seven-week period. Three levels of consensus were defined: A) 100%, B) 75-99%, and C) 50-74% or >75% but >25% neutral votes. Recommendations were categorized by agreement level, from strongly recommended to suggested. Patient advocates participated in discussions and were involved in the final cons...
Source: European Journal of Paediatric Neurology - March 30, 2024 Category: Neurology Authors: Lucia Laugwitz Daphne H Schoenmakers Laura A Adang Stefanie Beck-Woedl Caroline Bergner Genevi ève Bernard Annette Bley Audrey Boyer Valeria Calbi Hanka Dekker Florian Eichler Erik Eklund Francesca Fumagalli Francesco Gavazzi Sabine W Gr ønborg Peter va Source Type: research

Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings
CONCLUSIONS: Acquired vitamin deficiencies may display reversible clinical symptoms mimicking inherited metabolic disorders. Some situations raise suspicion for diagnosis: concordant clinical presentation, suggestive neuroimaging findings, and/or biochemical evidence. Any acute neurological condition should be treated without waiting for definitive biochemical confirmation.PMID:38520815 | DOI:10.1016/j.ejpn.2024.02.013 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 23, 2024 Category: Neurology Authors: Gabrielle Dupuy Charles-Joris Roux R émi Barrois Apolline Imbard Cl ément Pontoizeau Marie Th érèse Dangles M élodie Aubart Jean-Baptiste Arnoux Diane Margoses Ana ïs Brassier Clothilde Marbach Claire-Marine B érat Eug énie Sarda Cyril Gitiaux Pas Source Type: research