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)
Review
Clinical Neurology
Danielle M. Andrade, Anne T. Berg, Veronica Hood, Kelly G. Knupp, Sookyong Koh, Linda Laux, Mary Anne Meskis, Ian Miller, M. Scott Perry, Ingrid E. Scheffer, Joseph Sullivan, Nicole Villas, Elaine Wirrell
Summary: Transition from pediatric to adult care can be challenging for patients with Dravet syndrome (DS) due to suboptimal care in adult health care systems (HCS). A 2-page guide has been created by experts to address barriers in caring for adults with DS and facilitate the transition process.
Review
Clinical Neurology
Giovanni Battista Dell'Isola, Valerio Vinti, Antonella Fattorusso, Giorgia Tascini, Elisabetta Mencaroni, Giuseppe Di Cara, Pasquale Striano, Alberto Verrotti
Summary: The phenotypic expression of PCDH19 gene mutation associated with epilepsy varies greatly, including both epileptic and non-epileptic symptoms, with a predominant effect on females.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Konstantin L. Makridis, Anna-Lena Friedo, Christoph Kellinghaus, Florian-Phillip Losch, Bettina Schmitz, Christian BoBelmann, Angela M. Kaindl
Summary: CNB is a novel antiseizure medication that can significantly reduce seizure frequency in adult patients with DS.
Article
Medicine, General & Internal
Yuri Hase, Shigeru Takuma, Takayuki Hojo, Yukie Nitta, Nobuhito Kamekura
Summary: This article reports on the anesthetic management of a pediatric patient with Dravet syndrome (DS) who underwent dental treatment under general anesthesia. It highlights the importance of managing body temperature and avoiding seizure-inducing drugs during anesthesia, as well as the need for careful preoperative planning and postoperative collaboration with the attending pediatrician to respond to potential epileptic seizures.
Article
Clinical Neurology
Bjorn Bjurulf, Colin Reilly, Tove Hallbook
Summary: This study aims to describe seizure precipitants, preventive measures, and rescue therapies reported by caregivers of children with Dravet Syndrome (DS). All children in the study had experienced seizure precipitants and preventive measures were employed. The most common precipitants were fever and afebrile infections, while warm weather and physical activity were often avoided.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2022)
Article
Clinical Neurology
Dong Won Kwack, Hyemi Lee, Ran Lee, Dong Wook Kim
Summary: One-third of patients with childhood-onset epilepsy experience seizure improvement following transition to adult epilepsy care. The presence of epileptiform discharges on EEG may not necessarily indicate a poor prognosis or drug-resistant epilepsy following the transition.
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2022)
Article
Multidisciplinary Sciences
Xing Zhang, Matthew H. E. M. Browning, Yong Luo, Hansen Li
Summary: Physical activity is essential for maintaining physical and mental health. This study investigated the relationship between watching sports cartoons during childhood and adult physical activity and mental health. The findings suggest that watching sports cartoons may indirectly influence adult physical activity and mental health, with childhood sports experiences playing a critical mediator role. Watching sports cartoons can foster sports interests and promote children's participation in sports.
Article
Behavioral Sciences
Huibrie Pieters, Meagan Watson, Christine M. Baca
Summary: The study aimed to explore the perspectives of transition and transfer of epilepsy patients from pediatric to adult care by interviewing pediatric and adult epileptologists. The results showed that clinicians see the process as unnatural and disruptive, but they strive to overcome challenges and provide the best care. Epilepsy transition involves a spectrum of broad needs, some unique to epilepsy care and others common to chronic diseases. Despite difficulties, epilepsy clinicians express stress, empathy, and a commitment to providing optimal care.
EPILEPSY & BEHAVIOR
(2021)
Review
Psychiatry
Michael T. McKay, Mary Cannon, Derek Chambers, Ronan M. Conroy, Helen Coughlan, Philip Dodd, Colm Healy, Laurie O'Donnell, Mary C. Clarke
Summary: The review of various studies shows a significant association between childhood or adolescent exposure to bullying, emotional abuse, family violence, and parental loss, and the development of mental disorders in adulthood. Exposure to multiple forms of maltreatment was found to increase the odds of developing a mental disorder by more than three times. Childhood and adolescence are highlighted as critical periods for the risk of later mental illness and important time frames for intervention strategies.
ACTA PSYCHIATRICA SCANDINAVICA
(2021)
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
Medicine, General & Internal
Anna Winczewska-Wiktor, Adam Sebastian Hirschfeld, Magdalena Badura-Stronka, Paulina Komasinska-Piotrowska, Barbara Steinborn
Summary: The study aimed to find predictors for the effectiveness of ketogenic diet (KD) treatment and analyze the factors influencing efficacy based on the proposed classification and definition of epilepsy syndromes by the International League Against Epilepsy (ILAE). The results showed that KD therapy was effective in 69.05% of cases, independent of the type of diet but related to the etiology. The conclusion is that the etiology of seizures plays a significant role in the efficacy of KD treatment, and the new classification facilitates patient selection for this form of treatment.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Behavioral Sciences
Fabio A. Nascimento, Veronica Hood, Samantha Yap, Irfan S. Sheikh, Mary Anne Meskis, Elizabeth A. Thiele
Summary: This study examines the care transfer process of patients with Dravet syndrome in the U.S. It found that many patients were still followed by pediatric doctors and highlighted the lack of comprehensive care provided by adult neurology/epilepsy teams. Most caregivers rated the transfer process as good or very good.
EPILEPSY & BEHAVIOR
(2023)
Review
Behavioral Sciences
Melissa Mulraney, David Coghill, Caitlin Bishop, Yasemin Mehmed, Emma Sciberras, Michael Sawyer, Daryl Efron, Harriet Hiscock
Summary: The study found that experiencing mental health problems in childhood increases the risk of adult mental disorders, especially when symptoms escalate before the age of 14. Therefore, prevention and early intervention efforts should be targeted towards children in primary school rather than waiting for diagnosable disorders to appear.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2021)
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)
Editorial Material
Clinical Neurology
Catherine Chiron
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2018)
Article
Behavioral Sciences
Rima Nabbout, Stephane Auvin, Catherine Chiron, John Irwin, Arun Mistry, Nicola Bonner, Nicola Williamson, Bryan Bennett
EPILEPSY & BEHAVIOR
(2018)
Article
Behavioral Sciences
Mathieu Kuchenbuch, Nicole Chemaly, Kassem M. B. Henniene, Anna Kaminska, Catherine Chiron, Rima Nabbout
EPILEPSY & BEHAVIOR
(2018)
Article
Pharmacology & Pharmacy
Christelle Rodrigues, Stephanie Chhun, Catherine Chiron, Olivier Dulac, Elisabeth Rey, Gerard Pons, Vincent Jullien
EUROPEAN JOURNAL OF CLINICAL PHARMACOLOGY
(2018)
Article
Pharmacology & Pharmacy
Marwa Ounissi, Christelle Rodrigues, Hugues Bienayme, Paul Duhamel, Gerard Pons, Olivier Dulac, Rima Nabbout, Catherine Chiron, Vincent Jullien
JOURNAL OF CLINICAL PHARMACOLOGY
(2019)
Review
Clinical Neurology
Catherine Chiron
EXPERT REVIEW OF NEUROTHERAPEUTICS
(2019)
Review
Pharmacology & Pharmacy
Rima Nabbout, N. Chemaly, C. Chiron, M. Kuchenbuch
Summary: Management of individuals with Dravet Syndrome has seen significant progress in understanding the pathophysiology and outcomes of treatments. Antiseizure medications in infancy and childhood are crucial for safety considerations due to the active phase of seizures in early years. Recent treatments show promise in efficacy and safety, but individual assessment is still necessary to balance benefits and risks.
EXPERT OPINION ON DRUG SAFETY
(2021)
Review
Clinical Neurology
Rima Nabbout, Mathieu Kuchenbuch, Catherine Chiron, Paolo Curatolo
Summary: Epilepsy is a major symptom affecting individuals with tuberous sclerosis complex (TSC), with focal epilepsy being the most common type. Active screening and early management of epilepsy in individuals with TSC is recommended to limit the impact of epilepsy, improve quality of life, and reduce the economic burden of the disease.
Article
Clinical Neurology
Svetlana Gataullina, Gilles Galvani, Sabrina Touchet, Caroline Nous, Eric Lemaire, Jacques Laschet, Catherine Chiron, Olivier Dulac, Elena Dossi, Jean-Daniel Brion, Samir Messaoudi, Mouad Alami, Gilles Huberfeld
Summary: This study aims to find a drug target for the treatment of early-onset epilepsies. The research suggests that abnormal upregulation of specific NMDA receptor subunits in neurons may contribute to the development of early-onset epilepsies. By developing and screening compounds, researchers identified a compound that can pass through the blood-brain barrier and effectively inhibit NMDA currents. Testing on mice and human brain samples showed that this compound has anti-epileptic activity.
Article
Clinical Neurology
Catherine Chiron, Nicole Chemaly, Laurent Chancharme, Rima Nabbout
Summary: The study aims to evaluate the safety and efficacy of stiripentol in patients with Dravet syndrome initiated before the age of 2. The results show that stiripentol significantly reduces the frequency of long-lasting and status epilepticus seizures, decreases emergency hospitalizations, and mortality rate, demonstrating its beneficial effects in the treatment of infants with Dravet syndrome.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Neurosciences
A. Kaminska, V Delattre, J. Laschet, J. Dubois, M. Labidurie, A. Duval, A. Manresa, J-F Magny, S. Hovhannisyan, M. Mokhtari, L. Ouss, A. Boissel, L. Hertz-Pannier, M. Sintsov, M. Minlebaev, R. Khazipov, C. Chiron
Article
Clinical Neurology
Nicole Chemaly, Emma Losito, Jean Marc Pinard, Agnes Gautier, Nathalie Villeneuve, Anne Sophie Arbues, Isabelle An, Isabelle Desguerre, Olivier Dulac, Catherine Chiron, Anna Kaminska, Rima Nabbout
EPILEPTIC DISORDERS
(2018)
Article
Clinical Neurology
Catherine Chiron, Marie Helias, Anna Kaminska, Cecile Laroche, Bertrand de Toffol, Olivier Dulac, Rima Nabbout, Isabelle An
Article
Pharmacology & Pharmacy
Sophie Peigne, Stephanie Chhun, Michel Tod, Elisabeth Rey, Christelle Rodrigues, Catherine Chiron, Gerard Pons, Vincent Jullien
CLINICAL PHARMACOKINETICS
(2018)
Meeting Abstract
Clinical Neurology
C. Chiron, M. Helias, A. Kaminska, R. Nabbout, B. de Toffol, C. Laroche, I. An
Article
Behavioral Sciences
Thomas Johnstone, Maria Isabel Barros Guinle, Gerald A. Grant, Brenda E. Porter
Summary: The study aimed to evaluate the safety and impact of Dexmedetomidine Hydrochloride (DH) administration during pediatric invasive intracranial electroencephalography (IEEG). The results showed that DH administration was not associated with adverse events and did not significantly affect the frequency of seizures captured on the IEEG and the duration of hospitalization.
EPILEPSY & BEHAVIOR
(2024)
Article
Behavioral Sciences
Sabra Zaraa, H. Steve White, Andy Stergachis, Edward Novotny Jr, Chris Protos, Grant Simic, Jennifer L. Bacci
Summary: This study used design thinking to develop a community pharmacist-led intervention for people living with epilepsy. Four features - pharmacist-patient consultations, care plan development, regular check-ins, and care coordination with other health care providers - were identified as desirable, feasible, and viable for the intervention. The study highlights the importance of involving pharmacists in epilepsy care and provides evidence-based features for such interventions.
EPILEPSY & BEHAVIOR
(2024)
Article
Behavioral Sciences
Bofei Tan, Qiang Liu, Yameng Qin, Qiuyan Chen, Rong Chen, Yanzi Jin, Mengyun Li, Xiaodan Jia, Xianrui Xu, Qing Zhang
Summary: The purpose of this study was to identify factors associated with insomnia in patients with epilepsy. The results showed that nocturnal seizures and anxiety were independently associated with insomnia in these patients. Patients with epilepsy and insomnia were more likely to experience depression and excessive daytime sleepiness.
EPILEPSY & BEHAVIOR
(2024)
