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.

Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
Eur J Paediatr Neurol. 2023 Nov 13;48:17-29. doi: 10.1016/j.ejpn.2023.10.006. Online ahead of print.ABSTRACTOBJECTIVE: Developmental and epileptic encephalopathies (DEEs) are a group of severe, early-onset epilepsies characterised by refractory seizures, developmental delay, or regression and generally poor prognosis. DEE are now known to have an identifiable molecular genetic basis and are usually examined using a gene panel. However, for many patients, the genetic cause has still not been identified. The aims of this study were to identify causal variants for DEE in patients for whom the previous examination with a gene ...
Source: European Journal of Paediatric Neurology - November 26, 2023 Category: Neurology Authors: Lucie Sedlackova Katalin Sterbova Marketa Vlckova Pavel Seeman Jana Zarubova Petr Marusic Pavel Krsek Hana Krijtova Alena Musilova Petra Lassuthova Source Type: research

Respiratory function in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a 1.5-year natural history study
CONCLUSION: The majority of LAMA2-MD and all SELENON-RM patients had respiratory impairment. SELENON-RM patients showed lower respiratory function which was progressive, more prevalent mechanical ventilation, and more severe diaphragm atrophy and dysfunction than LAMA2-MD patients. Spirometry (FVC%, dVC) and respiratory muscle strength tests (SNIP) are useful in clinical care and as outcome measure in clinical trials.CLINICAL TRIAL NUMBER: NCT04478981.PMID:38008001 | DOI:10.1016/j.ejpn.2023.11.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 26, 2023 Category: Neurology Authors: Karlijn Bouman Jeroen L M van Doorn Jan T Groothuis Peter J Wijkstra Baziel G M van Engelen Corrie E Erasmus Jonne Doorduin Nicol C Voermans Source Type: research

An online survey among general pediatricians on melatonin use in children with chronic insomnia
CONCLUSIONS: MLT is widely prescribed by Italian pediatricians, but no consensus exists about its use in typically developing children. There is a need for clear guidelines to optimize the use of MLT in healthy children.PMID:38008002 | DOI:10.1016/j.ejpn.2023.11.004 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 26, 2023 Category: Neurology Authors: Oliviero Bruni Maria Breda Emanuela Malorgio Paolo Brambilla Flavia Ceschin Andrea Di Pilla Maurizio Elia Raffaele Ferri Source Type: research

'Focal Seizures in Dystonic Cerebral Palsy (DCP): Rare or common or both?
Eur J Paediatr Neurol. 2023 Nov 22:S1090-3798(23)00172-1. doi: 10.1016/j.ejpn.2023.11.010. Online ahead of print.NO ABSTRACTPMID:38007305 | DOI:10.1016/j.ejpn.2023.11.010 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 25, 2023 Category: Neurology Authors: Jean-Pierre Lin Source Type: research

Advances in genetics: The start of a new stage for management of focal cortical malformations
Eur J Paediatr Neurol. 2023 Nov 20:S1090-3798(23)00169-1. doi: 10.1016/j.ejpn.2023.11.007. Online ahead of print.NO ABSTRACTPMID:38007306 | DOI:10.1016/j.ejpn.2023.11.007 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 25, 2023 Category: Neurology Authors: Doroth ée Ville Source Type: research

Translational research for the development of treatment of patients with neurogenetic diseases: An important step for Angelman syndrome
Eur J Paediatr Neurol. 2023 Nov 17:S1090-3798(23)00170-8. doi: 10.1016/j.ejpn.2023.11.008. Online ahead of print.NO ABSTRACTPMID:37989651 | DOI:10.1016/j.ejpn.2023.11.008 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 21, 2023 Category: Neurology Authors: Bernard Dan Source Type: research

The kynurenine pathway of tryptophan metabolism in abdominal migraine in children - A therapeutic potential?
CONCLUSIONS: In conclusion, controlled placebo-based clinical trials with dietary manipulation to adjust the amount of the product of the KYN pathway of TRP metabolism are justified in children and adolescents with AM, especially those with coexisting obesity. Further preclinical studies are needed to establish details of these trials.PMID:37984006 | DOI:10.1016/j.ejpn.2023.11.001 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 20, 2023 Category: Neurology Authors: Michal Fila Cezary Chojnacki Jan Chojnacki Janusz Blasiak Source Type: research

Is ketogenic diet a 'precision medicine'? Recent developments and future challenges
Eur J Paediatr Neurol. 2023 Nov 15;48:13-16. doi: 10.1016/j.ejpn.2023.11.002. Online ahead of print.ABSTRACTRecently, precision medicine has attracted much attention in the management of epilepsies, but it remains unclear if the increasingly utilized ketogenic diet approaches can truly be considered precision medicine in all epilepsy treatment. Currently, it is the standard treatment for patients with GLUT1 deficiency and the latest NICE guidelines highlight ketogenic diet as a therapeutic option for multi-drug resistant epilepsy patients. Ketogenic diet is presumed to be a precision medicine tool when applied to the treat...
Source: European Journal of Paediatric Neurology - November 20, 2023 Category: Neurology Authors: Raffaele Falsaperla Vincenzo Sortino Pasquale Striano Gerhard Kluger Georgia Ramantani Martino Ruggieri Network for Therapy in Rare Epilepsies (NETRE) Source Type: research

Transcranial magnetic stimulation as a feasible, non-invasive, neuromodulatory intervention in fetal alcohol spectrum disorders. A very first proof of concept
CONCLUSION: FASD is a very complex disorder that is difficult to treat. In addition, comorbidities as atypical responses to pharmacotherapies are frequent. For this reason, non-invasive, innovative therapies for children with FASD have to be developed. For the first time, rTMS was shown to be safe, tolerable, and acceptable and thus well feasible in paediatric patients with FASD. Further clinical studies with larger samples are needed to identify effective stimulation protocols and to evaluate treatment response.PMID:37913649 | DOI:10.1016/j.ejpn.2023.10.004 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 1, 2023 Category: Neurology Authors: Anja Melder Esther Wittmann Lucia Bulubas Beate Dornheim Katharina Kerber Ulrike Vogelmann Mattia Campana Jasmin Hubert Vivien Schmidt Florian Heinen Frank Padberg Mirjam N Landgraf Source Type: research