Seizure Control Outcomes following Resection of Cortical Dysplasia in Patients with DEPDC5 Variants: A Systematic Review and Individual Patient Data Analysis
Conclusion Epilepsy surgery is effective in patients with pharmacoresistant focal epilepsy and coexistent DEPDC5 P, LP, or VUS variants. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - December 23, 2023 Category: Neurology Authors: McGinley, Christopher Teti, Saige Hofmann, Katherine Schreiber, John M. Cohen, Nathan T. Gaillard, William D. Oluigbo, Chima O. Tags: Review Articles Source Type: research
Evaluation of Neurodevelopmental Screening Test Scores in Children with Vitamin B12 Deficiency
Conclusion Vitamin B12 deficiency can lead to neurodevelopmental delay in children, even in the absence of neurological and hematological symptoms or complaints, which highlights the importance of early detection and intervention of vitamin B12 deficiency. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - December 20, 2023 Category: Neurology Authors: Tanc, Ceren Yildiz, Ismail Tags: Original Article Source Type: research
Effectiveness of Neuropediatric Inpatient Rehabilitation
Neuropediatrics DOI: 10.1055/s-0043-1777124
Aim Inpatient rehabilitation plays an important role in treating neurological diseases in children and adolescents. However, there is a lack of current research concerning this matter. This retrospective study aims to analyze the effectiveness of neuropediatric inpatient rehabilitation, to identify influencing factors, and to examine the importance of inpatient rehabilitation programs.
Methods We reviewed medical records of patients, diagnosed with cerebral palsy, traumatic brain injury (TBI), or stroke who had an inpatient rehabilitation at the Department of Neurop...
Source: Neuropediatrics - December 20, 2023 Category: Neurology Authors: Stadler, Hannah M üller, Kristina Kurlemann, Gerhard Lendt, Michael Tags: Original Article Source Type: research
Word-Finding Difficulties as a Prominent Early Finding in a Later Diagnosis of Attention Deficit Hyperactivity Disorder
Conclusion Preliminary evidence supports a predictive link between preschool WFDs and later ADHD diagnosis, highlighting the importance of early WFDs clinical attention. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - November 29, 2023 Category: Neurology Authors: Ganelin-Cohen, Esther Pilowsky Peleg, Tammy Leibovich, Noa Bachrachg, Esther Watemberg, Nathan Tags: Original Article Source Type: research
48th Annual Conference of the German Neuropediatric Society (GNP) and 19th GNP Training Course Academy
Neuropediatrics DOI: 10.1055/s-0043-1776112 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - November 13, 2023 Category: Neurology Authors: Rostasy, Kevin Tags: Editorial Source Type: research
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Neuropediatrics 2023; S 01 Article in Thieme eJournals: Table of contents | Congress (Source: Neuropediatrics)
Source: Neuropediatrics - November 13, 2023 Category: Neurology Source Type: research
Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case Series
Conclusion Recognition of the distinctive ictal aEEG pattern in the NICU allowed early and effective targeted therapy with CBZ in four neonates, well before genetic results became available. Furthermore, a CNV background pattern with SWC and short postictal suppression were associated with normal developmental outcomes. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - November 7, 2023 Category: Neurology Authors: Vilan, Ana Grangeia, Ana Ribeiro, Jos é Mendes Cilio, Maria Roberta de Vries, Linda S Tags: Original Article Source Type: research
Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome
Neuropediatrics DOI: 10.1055/a-2177-0358 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - October 29, 2023 Category: Neurology Authors: Freitas, Leonardo Furtado Miranda, Eduardo Carvalho Amaro, Aline Pimentel Narvaez, Eduardo de Oliveira Duarte, M árcio Luís Tags: Videos and Images in Neuropediatrics Source Type: research
Effects of Neonatal Hypoxic-Ischemic Injury on Brain Sterol Synthesis and Metabolism
Conclusions Differences in plasma oxysterols were seen at 24 hours but were not present at 30 minutes after injury, suggesting that these sterol intermediates would be of little value as early diagnostic biomarkers. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - October 23, 2023 Category: Neurology Authors: Dave, Amanda M. Porter, Ned A. Korade, Zeljka Peeples, Eric S. Tags: Original Article Source Type: research
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease
We present here two additional unrelated German patients found to carry the same heterozygous ACOX1 N237S variant through exome sequencing (ES). Both patients showed neurodegenerative clinical features starting from ∼4 to 5 years of age including progressive hearing loss, ataxia, ichthyosis, as well as progressive visual impairment leading to amaurosis, and died at the ages of 16 and 8 years, respectively. The first patient was clinically suspected to have anti–myelin oligodendrocyte glycoprotein-antibody-associated myelitis, but the disease course overall deteriorated despite extensive immunomodulatory therapy. The ...
Source: Neuropediatrics - October 16, 2023 Category: Neurology Authors: Thiels, C. L ücke, T. Rothoeft, T. Lukas, C. Nguyen, H. P. von Kleist-Retzow, J. C. Prokisch, H. Grimmel, M. Haack, T. B. Hoffjan, S. Tags: Short Communication Source Type: research
Hyperventilation and Seizures: Not a New sense: A Literature review
Neuropediatrics DOI: 10.1055/s-0043-1774808Hyperventilation and seizures have a long association in the clinical literature and were known to have a relationship long before the electroencephalogram (EEG) was used to record changes in brain activity. As the use of EEG recording progressed, hyperventilation was the first activation method used to assist with diagnosis of epilepsy. Along with slowing of brain activity, hyperventilation can activate epileptiform spiking activity in patients with epilepsy. Currently, hyperventilation is used in standard practice to assist with the diagnosis of epilepsy during EEG recording. Hy...
Source: Neuropediatrics - October 9, 2023 Category: Neurology Authors: Rana, Mandeep Steenari, Maija Shrey, Daniel Tags: Review Articles Source Type: research
Electroclinical Features of Epilepsy in Kleefstra's Syndrome
Conclusion Epilepsy is a frequent finding in KS, but the underlying pathogenetic mechanism and specific features remain elusive. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - October 6, 2023 Category: Neurology Authors: Giacomini, Thea Cordani, Ramona Bagnasco, Irene Vercellino, Fabiana Giordano, Lucio Milito, Giuseppe Ferrero, Giovanni Battista Mandrile, Giorgia Scala, Marcello Meli, Mariaclaudia Falsaperla, Raffaele Luria, Gianvittorio De Grandis, Elisa Canale, Edoardo Tags: Original Article Source Type: research
Spectrum, Evolution, and Clinical Relationship of Magnetic Resonance Imaging in 31 Children with Febrile Infection-Related Epilepsy Syndrome
Conclusion In contrast to the uniform clinical course, MRI demonstrated a broad spectrum of findings. Initially, these were mostly normal and therefore indicative of FIRES but then changed rapidly and were mostly progressive despite the stable chronic course. The cause may be ongoing disease, treatment intensity, or both. Future studies should focus on what process underlies the onset and the progression of brain atrophy. However, brain atrophy was not always related to poor outcomes in children despite FIRES. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of c...
Source: Neuropediatrics - October 5, 2023 Category: Neurology Authors: Moreno-Brauer, Darinka H äusler, Martin Kluger, Gerhard Hensler, Johannes van Baalen, Andreas Tags: Original Article Source Type: research
Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome
Conclusion This study suggests that sodium lactate infusion is possible in individuals with GLUT1DS, and may have potential therapeutic effects. Cellular abnormalities, beyond neuronal energy failure, may contribute to the underlying disease mechanisms of GLUT1DS, explaining why not all individuals respond to the supplementation of alternative energy sources. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | open access Full text (Source: Neuropediatrics)
Source: Neuropediatrics - September 22, 2023 Category: Neurology Authors: van Gemert, Loes A. van Alfen, Nens van Gaal, Lizzy Wortmann, Saskia Willemsen, Mich èl A. Tags: Original Article Source Type: research
Use of Sodium Channel Blockers in the Thr226Met Pathologic Variant of SCN1A: A Case Report
We report the use of SCB in a child harboring the Thr226Met pathologic variant of SCN1A with early-onset pharmaco-resistant migrating seizures, as well as developmental delay. Lacosamide led to a dramatic reduction in seizure frequency; however, only a mild improvement in the epileptic activity depicted by electroencephalography (EEG) was achieved. The introduction of carbamazepine as an add-on therapy led to a notable reduction in epileptic activity via EEG and to an improvement in sensorimotor development. Despite the overall clinical improvement, the patient developed febrile seizures and a nonepileptic jerking of the r...
Source: Neuropediatrics - September 18, 2023 Category: Neurology Authors: N ájera-Chávez, Brenda Carolina Seeber, Lea Goldhahn, Klaus Panzer, Axel Tags: Short Communications Source Type: research
