Article
Clinical Neurology
Dominique F. Leitner, Ziyan Lin, Zacharia Sawaged, Evgeny Kanshin, Daniel Friedman, Sasha Devore, Beatrix Ueberheide, Julia W. Chang, Gary W. Mathern, Jasper J. Anink, Eleonora Aronica, Thomas Wisniewski, Orrin Devinsky
Summary: This study used whole exome sequencing (WES), RNAseq, and proteomics to investigate the molecular mechanisms in Rasmussen encephalitis (RE) compared to non-RE epilepsy (PWE) and a control group. The results showed activated immune signaling pathways and involvement of dendritic and natural killer cells in RE. Additionally, HLA variants may contribute to susceptibility to RE.
Article
Clinical Neurology
Swetha J. Sundar, Elaine Lu, Eric S. Schmidt, Efstathios D. Kondylis, Deborah Vegh, Matthew J. Poturalski, Juan C. Bulacio, Lara Jehi, Ajay Gupta, Elaine Wyllie, William E. Bingaman
Summary: This study retrospectively analyzed long-term seizure outcomes and reoperation rates in Rasmussen encephalitis (RE) patients who underwent hemispherectomy. The study found that complete disconnection of the diseased hemisphere had a positive impact on seizure-freedom and reduced the need for reoperations. Shorter preoperative duration of hemiparesis, shorter duration of epilepsy, and preoperative bilateral MRI abnormalities were associated with an increased risk of reoperation.
Article
Clinical Neurology
Serena Pellegrin, Torsten Baldeweg, Suresh Pujar, Felice D'Arco, Gaetano Cantalupo, Sophia Varadkar, J. Helen Cross
Summary: The study demonstrates that the use of AZA in patients with RS can reduce the dependency on corticosteroids, decrease the incidence of EPC and hemiparesis. Patients in the AZA group had longer time to onset of EPC and hemiparesis compared to the control group, but there were no significant differences in cognitive function changes and hemispheric gray matter atrophy.
Article
Medicine, General & Internal
Fabio Martino Doniselli, Francesco Deleo, Stefania Criscuolo, Andrea Stabile, Chiara Pastori, Roberta Di Giacomo, Giuseppe Didato, Luisa Chiapparini, Flavio Villani
Summary: Late-onset Rasmussen encephalitis (LoRE) is characterized by milder and slower MRI changes compared to the childhood form. Frontal and temporal lobes are the most affected regions and show progressive worsening over time.
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Ursula Thome, Helio Rubens Machado, Marcelo Volpon Santos, Antonio Carlos Santos, Lauro Wichert-Ana
Summary: A 15-year-old boy presented with left body epilepsia partialis continua, hemiparesis, and right hemisphere dominant electroencephalogram abnormalities. MRI revealed a small hyperintense signal in the left putamen. F-18-FDG PET showed focal glucose hypermetabolism in the right paracentral lobule and hypometabolism in the inferior right frontal and precentral gyri. A subsequent MRI showed a hyperintense signal over the paracentral lobule, which was confirmed as Rasmussen encephalitis by biopsy. The patient underwent right hemispherotomy and achieved seizure freedom. This case highlights the importance of PET in the early diagnosis of Rasmussen encephalitis.
CLINICAL NUCLEAR MEDICINE
(2023)
Article
Clinical Neurology
Susanne Fauser, Christian E. Elger, Friedrich Woermann, Christian G. Bien
Summary: The study found that females and individuals over the age of 7 years were more likely to develop RE, with a higher prevalence in the left hemisphere. Perinatal complications and facial autoimmune conditions were more common in RE patients compared to controls. FEver was a more frequent trigger for RE manifestation, and there may be genetic or infectious factors involved in the development of the disease.
Article
Clinical Neurology
Jinkun Han, Xiaotong Fan, Sichang Chen
Summary: This case report highlights the diagnosis and treatment outcomes of a rare Rasmussen encephalitis patient with magnetic imaging and surgical records.
FRONTIERS IN NEUROLOGY
(2023)
Article
Neurosciences
Jesse J. Westfall, Wesley N. Schwind, Sahibjot Sran, Jason B. Navarro, Jeffrey Leonard, Jonathan A. Pindrik, Christopher R. Pierson, Daniel R. Boue, Daniel C. Koboldt, Adam P. Ostendorf, Richard K. Wilson, Elaine R. Mardis, Katherine E. Miller, Tracy A. Bedrosian
Summary: Rasmussen encephalitis (RE) is characterized by progressive loss of function and drug-resistant epilepsy, with affected brain tissue showing signs of inflammation. A recent study used single-nucleus RNA sequencing to examine gene expression in brain tissue from RE patients, revealing transcriptionally distinct microglial populations enriched in RE. These microglia showed increased expression of genes associated with cytokine signaling, interferon-mediated pathways, and T-cell activation. Furthermore, spatial proteomic analysis confirmed the presence of microglia with immune regulatory markers and their proximity to specific lymphocyte populations. This study provides insights into the complex immune microenvironment of RE.
ACTA NEUROPATHOLOGICA COMMUNICATIONS
(2022)
Article
Clinical Neurology
Fatima Jaafar, Makram Obeid, Ahmad Beydoun
Summary: This study evaluated the potential beneficial effects of early initiation of immunomodulation in Rasmussen encephalitis (RE) patients. The results showed that early use of intravenous immunoglobulins (IVIG) can slow disease progression, prevent surgical interventions, and reduce cerebral atrophy.
PEDIATRIC NEUROLOGY
(2023)
Article
Clinical Neurology
Ursula Thome, Larissa A. Batista, Renata P. Rocha, Vera C. Terra, Ana Paula A. Hamad, Americo C. Sakamoto, Antonio C. Santos, Marcelo Santos, Helio R. Machado
Summary: Rasmussen encephalitis (RE) is a characterized by pharmacoresistant epilepsy and progressive neurological deficits. Surgical disconnection of the affected hemisphere is considered the treatment of choice, although the precise etiology is still unknown. This study reports the clinical, electrographic, and neuroimaging features of children and adolescents who underwent hemispheric surgery (HS) for the treatment of RE.
PEDIATRIC NEUROLOGY
(2024)
Article
Neurosciences
Pei Liu, Xuemei Lin, Shenghua Zong, Yan Yan, Zhongzhong Liu, Qingli Lu, Qiaoqiao Chang, Songdi Wu
Summary: A nine-year-old boy presented with headache, cognitive decline, and hemiparesis. Brain MRI revealed bilateral cortical lesions with new lesions developing over five years. Initial diagnosis of primary angiitis of the central nervous system was considered. Treatment with corticosteroids, immunoglobulins, and cyclophosphamide worsened symptoms. Brain biopsy after five years showed pathology changes consistent with RE. Treatment with rituximab resulted in stable lesions on follow-up MRI. This case highlights the uniqueness and treatment challenges of this immune-mediated condition.
Article
Neurosciences
Valeria R. Lemos, Rafaela Aires, Larissa Z. Coco, Renan B. Domingues, Silvana S. Meyrelles, Elisardo C. Vasquez, Thiago M. C. Pereira, Bianca P. Campagnaro
Summary: This case report presents the significant beneficial effects of the probiotic kefir in RE for the first time. The findings strongly suggest kefir supplementation as a potential and safe-effective adjuvant therapeutic strategy in the control and treatment of RE.
NUTRITIONAL NEUROSCIENCE
(2022)
Article
Clinical Neurology
Christine Prager, Fabienne Kuhne, Anna Tietze, Angela M. Kaindl
Summary: This study reports the use of cannabidiol in three patients with drug-resistant Rasmussen encephalitis. Positive effects were observed in all three patients, exceeding the expected efficacy of other antiseizure drugs.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2022)
Article
Clinical Neurology
Justin R. Bingaman, Swetha J. Sundar, Jason K. Hsieh, Elaine Lu, Lara Jehi, Elaine Wyllie, Ajay Gupta, Richard Prayson, William E. Bingaman
Summary: This study investigated the relationship between the severity of pathology and seizure outcomes in patients with Rasmussen encephalitis who underwent hemispherectomy. The study found that longer duration of epilepsy and hemiparesis were associated with more severe pathology, while the presence of epilepsia partialis continua was associated with less severe pathology. The degree of cortical involvement with Rasmussen encephalitis did not correlate with seizure outcome after hemispherectomy.
WORLD NEUROSURGERY
(2022)
Article
Clinical Neurology
Brenda Cristina Nava, Ursula Thome Costa, Ana Paula Andrade Hamad, Camila Araujo Bernardino Garcia, Americo Ceiki Sakamoto, Davi Casale Aragon, Helio Rubens Machado, Marcelo Volpon Santos
Summary: This study analyzed the results of surgical treatment for Rasmussen Encephalitis (RE) and found that hemispherectomy is a safe and effective treatment method that can improve motor functionality and control seizures. Early surgical intervention should be considered once medical refractoriness has been established.
EPILEPTIC DISORDERS
(2023)
Article
Pediatrics
Farah Qureshi, Izzuddin M. Aris, Sheryl L. Rifas-Shiman, Wei Perng, Emily Oken, Janet Rich-Edwards, Andres Cardenas, Andrea A. Baccarelli, Michelle Bosquet Enlow, Mandy B. Belfort, Henning Tiemeier
Summary: This study investigated the association between leukocyte telomere length (LTL) at birth and markers of adiposity growth linked with cardiometabolic health later in life. The results suggest that LTL may be an early biomarker of altered adiposity growth, with shorter LTL being related to a later age of peak BMI for females and an earlier age of BMI rebound for both males and females.
Article
Clinical Neurology
Andreea Nissenkorn, Gerhard Kluger, Susanne Schubert-Bast, Allan Bayat, Marya Bobylova, Paolo Bonanni, Berten Ceulemans, Antonietta Coppola, Carlo Di Bonaventura, Martha Feucht, Anne Fuchs, Gudrun Groeppel, Gali Heimer, Brigitte Herdt, Sviatlana Kulikova, Konstantin Mukhin, Stefania Nicassio, Alessandro Orsini, Maria Panagiotou, Milka Pringsheim, Burkhard Puest, Olga Pylaeva, Georgia Ramantani, Maria Tsekoura, Paolo Ricciardelli, Tally Lerman Sagie, Brigit Stark, Pasquale Striano, Andreas van Baalen, Matthias De Wachter, Emanuele Cerulli Irelli, Claudia Cuccurullo, Celina von Stuelpnagel, Angelo Russo
Summary: A study involving 137 patients with different genetic epilepsies showed that perampanel had high efficacy in treating rare genetic epilepsies, especially in genes such as SCN1A, GNAO1, PIGA, PCDH19, SYNGAP1, CDKL5, NEU1, and POLG. This suggests a targeted effect of perampanel related to glutamate transmission in these patients, demonstrating good safety and efficacy.
Article
Clinical Neurology
Sally Elakkary, Anne Hagemann, Dennis Klimpel, Christian G. Bien, Christian Brandt
Summary: This retrospective study evaluated the serum concentrations of clobazam and N-desmethylclobazam (NCLB) in five patients before and after co-medication with cenobamate. The addition of cenobamate resulted in an increase in NCLB serum concentration and concentration-to-dose ratio (CDR) in all patients. However, the degree of increase varied among patients. Therefore, concomitant administration of cenobamate and clobazam can substantially increase serum concentrations of NCLB, leading to both positive therapeutic effects and unwanted fatigue.
Article
Clinical Neurology
Louisa Hohmann, Christian G. G. Bien, Martin Holtkamp, Philip Grewe
Summary: This study investigated the relevance of patients' psycho-social profile for surgical decision-making in epilepsy. The results showed that employment was the only relevant psycho-social aspect for neurologists' surgery recommendations, while subjective antiseizure medication adverse events, subjective seizure severity, and subjective cognitive impairment were important predictors for patients' acceptance of surgery.
Article
Neurosciences
Anissa Benzait, Valentina Krenz, Martin Wegrzyn, Anna Doll, Friedrich Woermann, Kirsten Labudda, Christian G. Bien, Johanna Kissler
Summary: The ability to regulate emotions is crucial for maintaining psychological health. Patients with frontal lobe epilepsy exhibit emotional dysregulation and maladaptive emotion regulation strategies. Our study found that frontal lobe epilepsy patients showed diminished neural activity in specific areas during emotion regulation and displayed different activity patterns compared to healthy controls.
HUMAN BRAIN MAPPING
(2023)
Review
Clinical Neurology
Sami Obaid, Jia-Shu Chen, George M. Ibrahim, Alain Bouthillier, Evan Dimentberg, Werner Surbeck, Elena Guadagno, Tristan Brunette-Clement, Nathan A. Shlobin, Aidan Shulkin, Andrew T. Hale, Luke D. Tomycz, Marec Von Lehe, Michael Scott Perry, Francine Chassoux, Viviane Bouilleret, Delphine Taussig, Martine Fohlen, Georg Dorfmuller, Koichi Hagiwara, Jean Isnard, Chima O. Oluigbo, Naoki Ikegaya, Dang K. Nguyen, Aria Fallah, Alexander G. Weil
Summary: Insular epilepsy is a type of drug-resistant epilepsy that can be treated with surgery. The surgery has a good success rate and is generally safe, with most patients experiencing seizure freedom and temporary neurological deficits. However, younger patients and those requiring invasive monitoring or stereotactic ablation procedures have lower rates of seizure freedom.
Article
Environmental Sciences
Laura Perez-Crespo, Esmee Essers, Maria Foraster, Albert Ambros, Henning Tiemeier, Monica Guxens
Summary: Outdoor residential exposure to road traffic and multiple noise levels may compromise sleep quality in preadolescents. Road traffic noise is associated with reduced total sleep time and longer wake after sleep onset, but not with maternal-reported sleep disturbances.
ENVIRONMENTAL RESEARCH
(2023)
Article
Obstetrics & Gynecology
X. Liu, M. Kayser, S. A. Kushner, H. Tiemeier, F. Rivadeneira, V. W. V. Jaddoe, W. J. Niessen, E. B. Wolvius, G. Roshchupkin
Summary: This study found that low-to-moderate levels of prenatal alcohol exposure (PAE) were associated with children's facial shape, even at levels below 12 g of alcohol per week. However, this association diminished as children grew older.
HUMAN REPRODUCTION
(2023)
Article
Obstetrics & Gynecology
Alexandra Hillcoat, Jaya Prakash, Leah Martin, Yu Zhang, Gabriela Rosa, Henning Tiemeier, Nicole Torres, Vicente Mustieles, Charleen D. Adams, Carmen Messerlian
Summary: The aetiology of female reproductive disorders is poorly understood despite their prevalence and burden on women's lives. Traumatic experiences may be linked to these disorders, and further research is needed to understand the relationship between trauma and reproductive outcomes. Racism may also act as a traumatic experience, and it is important to consider the interaction between mental and reproductive health. Neuroendocrinological mechanisms may contribute to the increased risk of adverse health outcomes in these domains. Future primary research is needed to investigate the proposed pathways between traumatic experiences and adverse female reproductive outcomes.
HUMAN REPRODUCTION
(2023)
Editorial Material
Psychology, Developmental
Henning Tiemeier
Summary: In their study on the stability of psychopathology using longitudinal population surveys, Oldehinkel and Ormel emphasize the importance of not only comparing groups but also focusing on within-person variability. They suggest that adopting a within-person approach can enhance our understanding of emotional and behavioral problems and potentially improve intervention research.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY
(2023)
Article
Multidisciplinary Sciences
Adriano Cattani, Franziska Schwarzer, Mario Schwarzer, Andrea Spyrantis, Gerhard Marquardt, Susanne Schubert-Bast, Volker Seifert, Thomas M. Freiman
Summary: This study analyzed the influence of adjustable differential pressure valve ventriculoperitoneal shunt on head circumference and ventricular size in infants with hydrocephalus. The results showed that after long-term follow-up and multiple valve adjustments, normalization of head circumference and ventricular size is possible. However, infants with hydrocephalus due to intraventricular hemorrhage require a higher valve value compared to those with other etiologies.
Article
Medicine, General & Internal
Hannah Dunkel, Adam Strzelczyk, Susanne Schubert-Bast, Matthias Kieslich
Summary: Previous studies have found facial emotion recognition (FER) impairments in individuals with epilepsy, but there are few studies on individuals with generalized epilepsies, especially juvenile myoclonic epilepsy (JME). This cross-sectional study aimed to examine FER and social adjustment in individuals with JME. The results showed that individuals with JME performed worse in global FER and fear and surprise recognition than healthy controls. Further studies with larger sample size are needed to confirm the potential FER impairment in JME patients.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Endocrinology & Metabolism
Tessa A. Mulder, Purdey J. Campbell, Peter N. Taylor, Robin P. Peeters, Scott G. Wilson, Marco Medici, Colin Dayan, Vincent V. W. Jaddoe, John P. Walsh, Nicholas G. Martin, Henning Tiemeier, Tim I. M. Korevaar
Summary: This study found that the effects of many known thyroid function-related genes are already apparent in childhood, and some genes have a greater impact on children compared to adults. These findings provide new insights into the genetic regulation of thyroid function in early life.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2023)
Review
Clinical Neurology
Susanne Schubert-Bast, Moninder Kaur, Lars Joeres, Nadia Foskett, Robert Roebling, Adam Strzelczyk
Summary: The present study provides an overview of the epidemiology of focal onset seizures in children aged >1 month to 4 years through a literature review. The estimated incidence and prevalence of focal onset seizures in this age group are reported, along with the commonly associated neurodevelopmental outcomes and psychiatric disorders.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2023)
Review
Clinical Neurology
Adam Strzelczyk, Lieven Lagae, Jo M. Wilmshurst, Andreas Brunklaus, Pasquale Striano, Felix Rosenow, Susanne Schubert-Bast
Summary: Dravet syndrome (DS) is a disease characterized by drug-resistant epilepsy with neurocognitive and neurobehavioral impairment, and it results in a significant burden on patients, caregivers, the healthcare system, and society. This literature review and narrative synthesis identified the evidence associated with the burden of DS, including epidemiology, quality of life, costs, and resource utilization. The study found variations in the incidence and prevalence of DS, lower quality of life in patients, significant impacts on caregivers, high direct costs, and a strong association between seizure burden and disease burden.