Article
Neurosciences
Sakiko Taniguchi, Jacob R. Stolz, Geoffrey T. Swanson
Summary: Perampanel (PMP) has been found to inhibit both AMPAR and KARs, suggesting that its clinical actions may arise from selective inhibition of different glutamate receptor signaling pathways.
JOURNAL OF NEUROSCIENCE
(2022)
Article
Cell Biology
Gabor Zsurka, Maximilian L. T. Appel, Maximilian Nastaly, Kerstin Hallmann, Niels Hansen, Daniel Nass, Tobias Baumgartner, Rainer Surges, Gunther Hartmann, Eva Bartok, Wolfram S. Kunz
Summary: This study reports on a family with three affected individuals exhibiting symptoms resembling a neurodevelopmental disorder. Whole-exome sequencing identified a homozygous stop-gain mutation in the BATF2 gene, which is predominantly expressed in macrophages and monocytes and plays a role in modulating pro-inflammatory responses. Transcriptome analysis showed altered expression of interferon-stimulated genes and elevated responses to innate immune stimuli in the patients' blood. These findings suggest that BATF2 may be a novel disease-associated gene candidate for severe epilepsy and mental retardation related to dysregulation of immune responses, highlighting the importance of neuroinflammation in epilepsy.
Article
Cell Biology
Sofia B. Lizarraga, Li Ma, Abbie M. Maguire, Laura van Dyck, Qing Wu, Qing Ouyang, Brian C. Kavanaugh, Dipal Nagda, Liane L. Livi, Matthew F. Pescosolido, Michael Schmidt, Shanique Alabi, Mara H. Cowen, Paul Brito-Vargas, Diane Hoffman-Kim, Ece D. Gamsiz Uzun, Avner Schlessinger, Richard N. Jones, Eric M. Morrow
Summary: Christianson syndrome (CS) is an X-linked neurological disorder caused by mutations in the SLC9A6 gene. By establishing induced pluripotent stem cell (iPSC) lines, researchers found that pathogenic mutations lead to loss of protein function, resulting in reduced neurite growth and arborization in patient-derived neurons. Rescue strategies included gene transfer and exogenous trophic factors like BDNF or IGF-1.
SCIENCE TRANSLATIONAL MEDICINE
(2021)
Article
Multidisciplinary Sciences
Maegan M. Weltzin, Andrew A. George, Ronald J. Lukas, Paul Whiteaker
Summary: Sleep-related hypermotor epilepsy (SHE) is associated with mutations in nicotinic acetylcholine receptors, affecting receptor function. Mutations were found to influence single-channel amplitudes and open- and closed-state kinetics.
Article
Biochemistry & Molecular Biology
Iris Schaeffner, Marie-Theres Wittmann, Tanja Vogel, D. Chichung Lie
Summary: The transcription factor FOXG1 plays important roles in brain development, and its dosage is crucial for proper neuronal development. High levels of FOXG1 disrupt the survival and fate acquisition of glutamatergic neurons in the hippocampus, but do not affect neurogenesis of GABAergic neurons in the subependymal zone/olfactory bulb system. Interfering with the function of the apoptosis-linked nuclear receptor Nr4a1 rescues FOXG1-dependent death of hippocampal progenitors.
MOLECULAR PSYCHIATRY
(2023)
Article
Multidisciplinary Sciences
Shaul Yahil, David F. Wozniak, Zihan Yan, Steven Mennerick, Maria S. Remedi
Summary: ATP-sensitive potassium gain-of-function mutations can lead to neonatal diabetes and various neurological deficits, with neuronal KATP-GOF potentially playing a role in cognitive dysfunction. Further research is needed to develop novel drugs to address these neurological features caused by neuronal KATP-GOF mutations.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Endocrinology & Metabolism
Marc Briquet, Anne-Berengere Rocher, Maxime Alessandri, Nadia Rosenberg, Haissa de Castro Abrantes, Joel Wellbourne-Wood, Celine Schmuziger, Vanessa Ginet, Julien Puyal, Etienne Pralong, Roy Thomas Daniel, Stefan Offermanns, Jean-Yves Chatton
Summary: Lactate can be utilized by neurons as an energy source and can decrease synaptic activity through activation of HCAR1 receptor, making HCAR1 an attractive target for the treatment of epilepsy.
JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM
(2022)
Article
Multidisciplinary Sciences
Yuxuan Zhuang, Colleen M. Noviello, Ryan E. Hibbs, Rebecca J. Howard, Erik Lindahl
Summary: This study characterized the ion permeation, membrane interactions, and ligand binding of the alpha 7 nicotinic acetylcholine receptor using computational electrophysiology, free-energy calculations, and molecular dynamics. The results revealed different structures corresponding to activated and desensitized states, with distinct interactions with ligands and lipids. The study proposed testable models of their state-dependent interactions with lipophilic ligands, including a mechanism for allosteric modulation at the transmembrane subunit interface.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Multidisciplinary Sciences
Elena Rodopska, Nikolay Topalov, Iliana Aleksandrova, Asya Asenova, Daniela Deneva, Maya Koleva, Elena Slavkova, Veneta Bojinova
Summary: Epilepsy is common in children with cerebral palsy, especially those with mental retardation. Focal seizures are the most common type, and early onset of seizures is associated with more severe mental retardation. Symptomatic epilepsy and severe mental retardation are most common in children with spastic quadriparesis.
COMPTES RENDUS DE L ACADEMIE BULGARE DES SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Alexandra M. McCoy, Thomas D. Prevot, Dishary Sharmin, James M. Cook, Etienne L. Sibille, Daniel J. Lodge
Summary: Although seizures are a characteristic feature of temporal lobe epilepsy, psychiatric comorbidities, including psychosis, are common and have a negative impact on the patients' quality of life. Current therapeutic protocols for psychosis in temporal lobe epilepsy are lacking due to the risk of inducing seizures and severe side effects associated with antipsychotic agents. Novel treatment strategies targeting hippocampal hyperactivity may provide a promising approach for managing psychosis in temporal lobe epilepsy.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Apostolos Mikroulis, Eliska Waloschkova, Johan Bengzon, David Woldbye, Lars H. Pinborg, Bo Jespersen, Anna Sanchez Avila, Zsofia Laszlo, Christopher Henstridge, Marco Ledri, Merab Kokaia
Summary: GDNF enhances GABAergic inhibitory transmission to counteract seizures, and may be a potential treatment for epileptic patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Neurosciences
Ashutosh Patel, Sierra A. Codeluppi, Kelsy S. J. Ervin, Myles B. St-Denis, Elena Choleris, Craig D. C. Bailey
Summary: This study provides a detailed characterization of mAChR function and its correlation with neuron morphology within the layer VI of the medial prefrontal cortex (mPFC). The results show that mAChR function is higher during the juvenile period compared to adulthood and is influenced by sex. Additionally, positive correlations between the magnitude of ACh/mAChR responses and dendrite morphology were identified in juvenile mice but not in adults.
Article
Neurosciences
Vanessa L. Breton, Mark S. Aquilino, Srinivasarao Repudi, Afifa Saleem, Shanthini Mylvaganam, Sara Abu-Swai, Berj L. Bardakjian, Rami Aqeilan, Peter L. Carlen
Summary: Loss of function mutations of the WWOX gene are associated with severe pediatric epileptic encephalopathy. Mouse models show that WWOX plays a crucial role in regulating neuronal excitability.
NEUROBIOLOGY OF DISEASE
(2021)
Review
Geriatrics & Gerontology
Caesar M. Hernandez, Abigail R. Hernandez, Jessica M. Hoffman, Peter H. King, Lori L. McMahon, Thomas W. Buford, Christy Carter, Jennifer L. Bizon, Sara N. Burke
Summary: The article discusses the history of neuroscience research on the neurobiology of aging and introduces gerontologists to the methodological approaches used by neuroscientists. The goal is to enhance collaboration between neuroscientists and gerontologists in order to strengthen the field of cognitive aging.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2022)
Article
Clinical Neurology
Anna-Lisa Sorg, Rudiger von Kries, Ingo Borggraefe
Summary: This longitudinal study analyzed data from German health insurance company and found that children with epilepsy have a higher risk of cognitive impairment compared to controls, and the risk is higher in those with earlier onset of epilepsy. Cognitive impairment is often diagnosed after the manifestation of epilepsy.
JOURNAL OF NEUROLOGY
(2022)