Article
Clinical Neurology
Hyo M. Lee, Seok-Jun Hong, Ravnoor Gill, Benoit Caldairou, Irene Wang, Jian-guo Zhang, Francesco Deleo, Dewi Schrader, Fabrice Bartolomei, Maxime Guye, Kyoo Ho Cho, Carmen Barba, Sanjay Sisodiya, Graeme Jackson, R. Edward Hogan, Lily Wong-Kisiel, Gregory D. Cascino, Andreas Schulze-Bonhage, Iscia Lopes-Cendes, Fernando Cendes, Renzo Guerrini, Boris Bernhardt, Neda Bernasconi, Andrea Bernasconi
Summary: This study explores the associations between Focal cortical dysplasia (FCD) and cytoarchitecture, gene expression, and axes of cortical organization. The findings suggest that the vulnerability of the frontal lobe to FCD may be due to early termination of prenatal neurogenesis and aberrant postnatal synaptogenesis.
Article
Clinical Neurology
Stefan Rampp, Karl Rossler, Hajo Hamer, Margit Illek, Michael Buchfelder, Arnd Doerfler, Tom Pieper, Till Hartlieb, Manfred Kudernatsch, Konrad Koelble, Jose Eduardo Peixoto-Santos, Ingmar Blumcke, Roland Coras
Summary: This study demonstrated correlations between dysmorphic neurons and neurophysiological markers, identifying their role in seizure onset, fast gamma activity, and ripples, providing a new tool for localizing epileptic activity in the human brain.
CLINICAL NEUROPHYSIOLOGY
(2021)
Article
Clinical Neurology
Lorenzo Ricci, Eleonora Tamilia, Mattia Mercier, Chiara Pepi, Giusy Carfi-Pavia, Alessandro De Benedictis, Giovanni Assenza, Vincenzo Di Lazzaro, Federico Vigevano, Nicola Specchio, Luca de Palma
Summary: This study aimed to evaluate whether ictal phase-amplitude coupling (PAC) could be used as a preoperative biomarker for Focal Cortical Dysplasia (FCD) subtypes. It was found that the strength of ictal PAC was significantly higher in patients with FCD type II compared to type I, only on SOZ electrodes. Pre-ictal PAC on SOZ electrodes predicted FCD histopathology with a classification accuracy > 0.9.
CLINICAL NEUROPHYSIOLOGY
(2023)
Article
Clinical Neurology
Amanda Almacellas Barbanoj, Robert T. Graham, Benito Maffei, Jenna C. Carpenter, Marco Leite, Justin Hoke, Felisia Hardjo, James Scott-Solache, Christos Chimonides, Stephanie Schorge, Dimitri M. Kullmann, Vincent Magloire, Gabriele Lignani
Summary: Focal cortical dysplasias are a common type of cortical development abnormality that often leads to cognitive and behavioral abnormalities as well as drug-resistant epilepsy. A gene therapy approach targeting the overexpression of the Kv1.1 potassium channel has shown promising results in reducing seizures in a mouse model of frontal lobe focal cortical dysplasia.
Article
Clinical Neurology
Radek Janca, Petr Jezdik, Matyas Ebel, Adam Kalina, Martin Kudr, Alena Jahodova, David Krysl, Katerina Mackova, Barbora Straka, Petr Marusic, Pavel Krsek
Summary: This study demonstrates that electrophysiological patterns can accurately differentiate FCD types and help predict presurgical MRI findings, providing more precise surgical plans for patients.
CLINICAL NEUROPHYSIOLOGY
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Yongxiang Tang, Jie Yu, Ming Zhou, Jian Li, Tingting Long, Yulai Li, Li Feng, Dengming Chen, Zhiquan Yang, Yiyun Huang, Shuo Hu
Summary: In this study, the SV2A abnormalities in patients with FCD II were evaluated using F-18-SynVesT-1 PET and compared with F-18-FDG PET. The results showed that F-18-SynVesT-1 PET had a higher accuracy for the localization of FCD II lesions than MRI and a more restricted pattern of abnormality than F-18-FDG PET.
EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING
(2022)
Article
Clinical Neurology
Rupesh Kumar Chikara, Saeed Jahromi, Eleonora Tamilia, Joseph R. Madsen, Steve M. Stufflebeam, Phillip L. Pearl, Christos Papadelis
Summary: The study aims to evaluate the diagnostic accuracy of electromagnetic source imaging (EMSI) in localizing spikes and predicting surgical outcome in children with drug resistant epilepsy (DRE) due to focal cortical dysplasia (FCD). We analyzed MEG and HD-EEG data from 23 children and compared the localization accuracy and predictive performance of EMSI, ESI, and MSI. The results showed that EMSI had superior localization accuracy and predictive performance compared to individual modalities.
CLINICAL NEUROPHYSIOLOGY
(2023)
Article
Clinical Neurology
Philip H. I. I. I. I. Iffland, Mariah E. Everett, Katherine M. Cobb-Pitstick, Lauren E. Bowser, Allan E. Barnes, Janice K. Babus, Andrea J. Romanowski, Marianna Baybis, Soad Elziny, Erik G. Puffenberger, Claudia Gonzaga-Jauregui, Alexandros Poulopoulos, Vincent J. Carson, Peter B. Crino
Summary: This study reveals the association between mutations in the NPRL3 gene and epilepsy and malformations of cortical development. Knockout experiments show that loss of NPRL3 affects mTOR signaling, neuronal morphology, cortical development, and seizure susceptibility. Rapamycin is found to rescue these abnormalities.
Article
Clinical Neurology
Hannah Spitzer, Mathilde Ripart, Kirstie Whitaker, Felice D'Arco, Kshitij Mankad, Andrew A. Chen, Antonio Napolitano, Luca De Palma, Alessandro De Benedictis, Stephen Foldes, Zachary Humphreys, Kai Zhang, Wenhan Hu, Jiajie Mo, Marcus Likeman, Shirin Davies, Christopher Guttler, Matteo Lenge, Nathan T. Cohen, Yingying Tang, Shan Wang, Aswin Chari, Martin Tisdall, Nuria Bargallo, Estefania Conde-Blanco, Jose Carlos Pariente, Saul Pascual-Diaz, Ignacio Delgado-Martinez, Carmen Perez-Enriquez, Ilaria Lagorio, Eugenio Abela, Nandini Mullatti, Jonathan O'Muircheartaigh, Katy Vecchiato, Yawu Liu, Maria Eugenia Caligiuri, Ben Sinclair, Lucy Vivash, Anna Willard, Jothy Kandasamy, Ailsa McLellan, Drahoslav Sokol, Mira Semmelroch, Ane G. Kloster, Giske Opheim, Leticia Ribeiro, Clarissa Yasuda, Camilla Rossi-Espagnet, Khalid Hamandi, Anna Tietze, Carmen Barba, Renzo Guerrini, William Davis Gaillard, Xiaozhen You, Irene Wang, Sofia Gonzalez-Ortiz, Mariasavina Severino, Pasquale Striano, Domenico Tortora, Reetta Kalviainen, Antonio Gambardella, Angelo Labate, Patricia Desmond, Elaine Lui, Terence O'Brien, Jay Shetty, Graeme Jackson, John S. Duncan, Gavin P. Winston, Lars H. Pinborg, Fernando Cendes, Fabian J. Theis, Russell T. Shinohara, J. Helen Cross, Torsten Baldeweg, Sophie Adler, Konrad Wagstyl
Summary: One of the challenges in applying machine learning to diagnostic biomedical imaging is the interpretability of algorithms. This study developed an open-source and interpretable machine-learning algorithm to automatically identify FCDs from structural MRI data, improving the confidence of physicians in identifying subtle MRI lesions in individuals with epilepsy.
Article
Genetics & Heredity
Changuk Chung, Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil H. Mittal, Catharina Donkels, H. Westley Phillips, Zhen Li, Ashley P. L. Marsh, Martin Breuss, Laurel Ball, Camila Araujo Bernardino Garcia, Renee George, Jing Gu, Mingchu Xu, Chelsea Barrows, Kiely James, Valentina Stanley, Anna Nidhiry, Sami Khoury, Gabrielle Howe, Emily Riley, Xin Xu, Brett Copeland, Yifan G. Wang, Se Hoon L. Kim, Hoon-Chul W. Kang, Andreas Schulze-Bonhage, Carola Haas, Horst Urbach, Marco Prinz, David A. Limbrick, Christina Gurnett, Matthew C. Smyth, Shifteh M. Sattar, Mark B. Nespeca, David V. Gonda, Katsumi Y. Imai, Yukitoshi E. Takahashi, Hsin-Hung B. Chen, Jin-Wu Tsai, Valerio Conti, Renzo Guerrini, Orrin Devinsky, Wilson Silva, Helio M. Machado, Gary Mathern, Alexej Abyzov, Sara Baldassari, Stephanie Baulac, Joseph G. Gleeson
Summary: Malformations of cortical development (MCD) are neurological disorders caused by somatic mosaic mutations during embryogenesis, leading to intractable epilepsy. This study identified 69 mutated genes from 283 brain resections and investigated their functional roles using various techniques. Genotype-phenotype correlation analysis revealed specific gene sets associated with different pathophysiological and clinical phenotypes of MCD. The spatiotemporal expression patterns of mutated genes in control and patient brains suggest their critical roles in excitatory neurogenesis and neuronal hyperexcitability.
Article
Medical Informatics
Saeed Montazeri Moghadam, Manu Airaksinen, Paivi Nevalainen, Viviana Marchi, Lena Hellstrom-Westas, Nathan J. Stevenson, Sampsa Vanhatalo
Summary: This study developed an automated algorithm that transforms EEG recordings into quantified interpretations of EEG background and provides simple intuitive visualizations. The researchers found that the trend of brain state in newborns was closely related to the onset of continuous EEG activity and sleep-wake cycling, and it showed significant differences between different aEEG categories. These findings may contribute to the wider use of EEG monitoring in neurocritical care and facilitate clinical intervention trials.
LANCET DIGITAL HEALTH
(2022)
Article
Clinical Neurology
Ariane Lewis, Steven Galetta
Summary: In their research article, Chassoux et al. conducted a retrospective review on 60 patients with focal cortical dysplasia type 2 (FCD2) in the central region who underwent surgical resection. They found that 88% of patients achieved seizure freedom after surgery, and although 87% experienced early transitory postoperative deficits, 40% of them fully recovered. It was also observed that patients with FCD2 can have preoperative and postoperative neurologic deficits, and some patients showed improvement after surgery.
Article
Clinical Neurology
Horst Urbach, Marcel Heers, Dirk-Matthias Altenmueller, Andreas Schulze-Bonhage, Anke Maren Staack, Thomas Bast, Marco Reisert, Ralf Schwarzwald, Christoph P. Kaller, Hans-Juergen Huppertz, Theo Demerath
Summary: Automated MRI postprocessing tool was evaluated for enhanced and rapid detection of focal cortical dysplasia (FCD). The results showed effective identification of FCD within a minute, with a need for careful comparison with conventional MRI images to reduce false positives.
Article
Cell Biology
Xiaolin Yang, Xiaoqing Zhang, Yuanshi Ma, Zhongke Wang, Kaixuan Huang, Guolong Liu, Kaifeng Shen, Gang Zhu, Tingting Wang, Shengqing Lv, Chunqing Zhang, Hui Yang, Shiyong Liu
Summary: The injection of rHMGB1 in rats can induce epileptogenic CD similar to human CD, with disrupted cortical structure, heterotopia formation, and abnormal neurons. Additional studies found increased excitatory receptors and abnormal EEG in rHMGB1-treated rats.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Clinical Neurology
Riyo Ueda, Masaki Iwasaki, Yosuke Kita, Hiroshige Takeichi, Takashi Saito, Eiji Nakagawa, Kenji Sugai, Takashi Okada, Masayuki Sasaki
Summary: The study aimed to investigate whether the neurodevelopmental outcome of infants after epilepsy surgery can be quantitatively assessed by EEG functional connectivity analysis. The findings indicated that most infants achieved seizure freedom postoperatively, preoperative abnormal connectivity was normalized after surgery, and postoperative hyperconnectivity was associated with long-term neurodevelopmental improvement.
CLINICAL NEUROPHYSIOLOGY
(2021)
Article
Clinical Neurology
Jun Thorsteinsdottir, Christian Vollmar, Joerg-Christian Tonn, Friedrich-Wilhelm Kreth, Soheyl Noachtar, Aurelia Peraud
JOURNAL OF NEUROLOGY
(2019)
Letter
Clinical Neurology
O. Kremmyda, V. Kirsch, S. Bardins, H. Lohr, C. Vollmar, S. Noachtar, M. Dieterich
JOURNAL OF NEUROLOGY
(2019)
Article
Clinical Neurology
Britta Wandschneider, Seok-Jun Hong, Boris C. Bernhardt, Fatemeh Fadaie, Christian Vollmar, Matthias J. Koepp, Neda Bernasconi, Andrea Bernasconi
Article
Astronomy & Astrophysics
Christian Brem, Juergen Lutz, Christian Vollmar, Matthias Feuerecker, Claudia Strewe, Igor Nichiporuk, Galina Vassilieva, Gustav Schelling, Alexander Chouker
LIFE SCIENCES IN SPACE RESEARCH
(2020)
Article
Clinical Neurology
Jan Remi, Sophie Shen, Moritz Tacke, Philipp Probst, Lucia Gerstl, Aurelia Peraud, Mathias Kunz, Christian Vollmar, Soheyl Noachtar, Ingo Borggraefe
CLINICAL EEG AND NEUROSCIENCE
(2020)
Article
Clinical Neurology
Elisabeth Kaufmann, Magdalena Seethaler, Michael Lauseker, Min Fan, Christian Vollmar, Soheyl Noachtar, Jan Remi
Article
Clinical Neurology
Lorenzo Caciagli, Britta Wandschneider, Maria Centeno, Christian Vollmar, Sjoerd B. Vos, Karin Trimmel, Lili Long, Fenglai Xiao, Alexander J. Lowe, Meneka K. Sidhu, Pamela J. Thompson, Gavin P. Winston, John S. Duncan, Matthias J. Koepp
Article
Clinical Neurology
Magdalena Seethaler, Michael Lauseker, Katharina Ernst, Jan Remi, Christian Vollmar, Soheyl Noachtar, Elisabeth Kaufmann
Summary: The study revealed significantly longer seizure durations in cases of left-hemispheric seizure onset, especially in temporal lobe seizures. Seizures starting in the left hemisphere also showed prolonged duration when commencing during waking state, but not during sleep. Gender differences were observed, with a similar hemispheric difference in seizure duration found in female patients, but not in men.
ACTA NEUROLOGICA SCANDINAVICA
(2021)
Review
Clinical Neurology
Filipp M. Filippopulos, Christian Brem, Klaus Seelos, Thomas Koeglsperger, Stefan Sonnenfeld, Lars Kellert, Christian Vollmar
Summary: This study reviews the historical and current literature of crossing pathologies of the corticospinal tract (CST) and presents a rare case of asymmetric crossing of the CST in healthy humans. While descriptions of CST crossing pathologies are rare in healthy individuals, they appear to be more common in genetic disorders.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Elisabeth Kaufmann, Joanna Bartkiewicz, Nicholas Fearns, Katharina Ernst, Christian Vollmar, Soheyl Noachtar
Summary: The study found that involuntary unilateral blinking is associated with activation of the anterior temporal region. Probabilistic tractography showed widespread projections to ipsilateral frontal, pericentral, occipital, limbic, and cerebellar regions. Blinking was predominantly observed in female patients with temporal lobe epilepsies.
Article
Clinical Neurology
Frederik Jan Moorhouse, Sonia Cornell, Lucia Gerstl, Johanna Wagner, Moritz Tacke, Timo Roser, Florian Heinen, Celina von Stuelpnagel, Christian Vollmar, Mathias Kunz, Georgia Ramantani, Ingo Borggraefe
Summary: The study aimed to determine the relationship between cognitive impairment and the extent of the presumed epileptogenic zone in pediatric focal epilepsies. Results showed that pediatric multilobar epilepsy patients tend to have more cognitive issues compared to unilobar epilepsy patients on average. Identifying children and adolescents who are most at risk for impaired cognitive development is important based on these findings.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2022)
Article
Clinical Neurology
Mathias Kunz, Philipp Karschnia, Ingo Borggraefe, Soheyl Noachtar, Joerg-Christian Tonn, Christian Vollmar
Summary: This study aimed to investigate the effectiveness and safety of repeated epilepsy surgery in patients with persistent or recurrent seizures. The results showed that 71% of patients had improved seizure control after reoperation. Additionally, the incidence of perioperative complications was low, with no fatalities.
JOURNAL OF NEUROSURGERY
(2023)
Meeting Abstract
Clinical Neurology
L. Caciagli, C. Paquola, X. He, C. Vollmar, M. Centeno, B. Wandschneider, U. Braun, K. Trimmel, S. B. Vos, M. K. Sidhu, P. J. Thompson, S. Baxendale, G. P. Winston, J. S. Duncan, D. S. Bassett, M. J. Koepp, B. C. Bernhardt
Article
Clinical Neurology
Elisabeth Kaufmann, Kai Boetzel, Christian Vollmar, Jan-Hinnerk Mehrkens, Soheyl Noachtar
Summary: The study retrospectively analyzed the long-term outcomes of 23 patients with anterior nucleus of the thalamus (ANT) deep brain stimulation (DBS), showing that most patients experienced a reduction in seizure frequency of over 50% and had positive treatment effects. Bilateral implantation and successful stimulation of the ANT appeared to be more effective in controlling seizures.
JOURNAL OF NEUROSURGERY
(2021)
Article
Clinical Neurology
Theresa Halder, Thomas Schenk, Elisabeth Wlasich, Christian Vollmar, Ingo Uttner, Adrian Danek
Summary: In this case study, patient C.H. experienced global amnesia and cognitive limitations due to herpes simplex encephalitis at a young age. Despite persistent explicit memory impairment and limited vocabulary, C.H. was able to develop effective strategies and achieve a high level of autonomy in daily life, serving as an inspirational example for implementing creative methods to compensate for cognitive limitations.
