keyword
https://read.qxmd.com/read/38265350/epilepsy-s-effect-on-cardiac-rhythm-and-the-autonomic-nervous-system
#21
JOURNAL ARTICLE
Tulin Gesoglu Demir, Fatih Gungoren, Ozlem Uzunkaya Ethemoglu, Dilek Agircan
OBJECTIVE: Sudden unexpected death in epilepsy is the most common cause of death in young patients with epilepsy. The aim of this study was to evaluate changes in interictal electrocardiogram parameters and sympathetic skin responses as markers of autonomic dysfunction in patients with epilepsy and to determine their effects on the type and duration of epilepsy, frequency of seizures, and responses to treatment. METHODS: A total of 97 patients with epilepsy and 94 healthy controls were recruited...
2024: Revista da Associação Médica Brasileira
https://read.qxmd.com/read/38116105/case-report-childhood-epilepsy-and-borderline-intellectual-functioning-hiding-an-aadc-deficiency-disorder-associated-with-compound-heterozygous-ddc-gene-pathogenic-variants
#22
Ida Cursio, Sabrina Siliquini, Claudia Carducci, Giovanni Bisello, Mario Mastrangelo, Vincenzo Leuzzi, Mariarita Bertoldi, Carla Marini
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder leading to severe combined serotonin, dopamine, norepinephrine, and epinephrine deficiency. We report on a female patient with borderline functioning and sporadic clear-cut focal to bilateral seizures from age 10 years. A neuropsychological assessment highlighted a mild impairment in executive functions, affecting attention span and visual-spatial abilities. Following the diagnosis of epilepsy with a presumed genetic etiology, we applied a diagnostic approach inclusive of a next-generation sequencing (NGS) gene panel, which uncovered two variants in trans in the DOPA decarboxylase ( DDC ) gene underlying an AADC deficiency...
2023: Frontiers in Neurology
https://read.qxmd.com/read/38096663/fly-catching-syndrome-responsive-to-a-gluten-free-diet-in-a-french-bulldog
#23
JOURNAL ARTICLE
Greta Galli, Stefania Uccheddu, Marika Menchetti
OBJECTIVE: Fly-catching syndrome (FCS) is a rare condition typically characterized by episodes during which affected dogs bite or lick the air and jump for no apparent reason. Among veterinary literature, obsessive-compulsive disorders, focal epileptic seizures, and underlying gastrointestinal diseases were considered the most likely triggering causes. Recently, gluten-sensitive dyskinesia has been described in dogs, but it has never been reported to be associated to FCS. ANIMAL: A 6-year-old male French Bulldog...
December 15, 2023: Journal of the American Veterinary Medical Association
https://read.qxmd.com/read/38088013/imaging-biomarkers-of-sleep-related-hypermotor-epilepsy-and-sudden-unexpected-death-in-epilepsy-a-review
#24
REVIEW
Francesco Misirocchi, Anna Elisabetta Vaudano, Irene Florindo, Lucia Zinno, Alessandro Zilioli, Elisa Mannini, Liborio Parrino, Carlotta Mutti
In recent years, imaging has emerged as a promising source of several intriguing biomarkers in epilepsy, due to the impressive growth of imaging technology, supported by methodological advances and integrations of post-processing techniques. Bearing in mind the mutually influencing connection between sleep and epilepsy, we focused on sleep-related hypermotor epilepsy (SHE) and sudden unexpected death in epilepsy (SUDEP), aiming to make order and clarify possible clinical utility of emerging multimodal imaging biomarkers of these two epilepsy-related entities commonly occurring during sleep...
January 2024: Seizure: the Journal of the British Epilepsy Association
https://read.qxmd.com/read/38083329/eeg-epileptic-data-classification-using-the-schrodinger-operator-s-spectrum
#25
JOURNAL ARTICLE
Maria Sara Nour Sadoun, Muhammad Mahboob Ur Rahman, Tareq Al-Naffouri, Taous-Meriem Laleg-Kirati
Epilepsy is a common brain disorder characterized by recurrent, unprovoked seizures which affects over 65 million people. Visual inspection of Electroencephalograms (EEG) is common for diagnosis; however, it requires time and expertise. Therefore, an accurate computer-aided epileptic seizure diagnosis system would be valuable. A new research tendency when tackling epileptic seizure detection tends towards minimizing human manual intervention by designing frameworks with autonomous feature engineering. In this optic, this paper proposes a new approach for EEG epileptic data classification...
July 2023: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://read.qxmd.com/read/38077069/loss-of-slc35a2-alters-development-of-the-mouse-cerebral-cortex
#26
Soad Elziny, Sahibjot Sran, Hyojung Yoon, Rachel R Corrigan, John Page, Amanda Ringland, Anna Lanier, Sara Lapidus, James Foreman, Erin L Heinzen, Philip Iffland, Peter B Crino, Tracy A Bedrosian
Brain somatic variants in SLC35A2 are associated with clinically drug-resistant epilepsy and developmental brain malformations, including mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). SLC35A2 encodes a uridine diphosphate galactose translocator that is essential for protein glycosylation; however, the neurodevelopmental mechanisms by which SLC35A2 disruption leads to clinical and histopathological features remain unspecified. We hypothesized that focal knockout (KO) or knockdown (KD) of Slc35a2 in the developing mouse cortex would disrupt cerebral cortical development through altered neuronal migration and cause changes in network excitability...
November 30, 2023: bioRxiv
https://read.qxmd.com/read/38053649/systematic-review-clinical-characteristics-of-anti-n-methyl-d-aspartate-receptor-encephalitis
#27
REVIEW
Xi Zhao, Yuou Teng, Jingnian Ni, Ting Li, Jing Shi, Mingqing Wei
BACKGROUND: The number of reported cases of anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis has gradually increased since its discovery in 2007, while there are no uniform treatment guidelines. OBJECTIVE: To summarize the clinical characteristics of patients with anti-NMDAR encephalitis and to analyze the factors affecting the disease prognosis. METHODS: A systematic analysis of medical records was conducted, and PubMed, Embase, and Cochrane Library were searched from January 1, 2011, to December 31, 2021...
2023: Frontiers in Human Neuroscience
https://read.qxmd.com/read/38022446/harlequin-syndrome-and-autonomic-seizures-a-rare-association
#28
JOURNAL ARTICLE
Bhawna Sharma, Pankajkumar Sharma, Ishreen Ahuja, Ashish Pemawat
No abstract text is available yet for this article.
2023: Annals of Indian Academy of Neurology
https://read.qxmd.com/read/38022020/neurological-manifestations-of-connective-tissue-disorders
#29
REVIEW
Riddhi S Poshattiwar, Sourya Acharya, Samarth Shukla, Sunil Kumar
Connective tissue disorders (CTD) are a group of disorders affecting the connective tissues. Usually the musculoskeletal and the vascular system is impacted. Along with these systems, the nervous system is also involved in CTD, which leads to various neurological manifestations. The pathophysiology of neurological complications of CTD is caused by various factors and is complicated. Disturbed immune complexes, chronic inflammation, and autoimmunity in which the body attacks its cells are considered to be responsible for the neurological complications of CTD...
October 2023: Curēus
https://read.qxmd.com/read/37963722/unravelling-the-influence-of-affective-stimulation-on-functional-neurological-symptoms-a-pilot-experiment-examining-potential-mechanisms
#30
JOURNAL ARTICLE
Susannah Pick, Ls Merritt Millman, Emily Ward, Eleanor Short, Biba Stanton, Aat Simone Reinders, Joel S Winston, Timothy R Nicholson, Mark J Edwards, Laura H Goldstein, Anthony S David, Trudie Chalder, Matthew Hotopf, Mitul A Mehta
BACKGROUND: Differences in affective processing have previously been shown in functional neurological disorder (FND); however, the mechanistic relevance is uncertain. We tested the hypotheses that highly arousing affective stimulation would result in elevated subjective functional neurological symptoms (FNS), and this would be associated with elevated autonomic reactivity. The possible influence of cognitive detachment was also explored. METHOD: Individuals diagnosed with FND (motor symptoms/seizures; n=14) and healthy controls (n=14) viewed Positive, Negative and Neutral images in blocks, while passively observing the stimuli ('Watch') or detaching themselves ('Distance')...
November 14, 2023: Journal of Neurology, Neurosurgery, and Psychiatry
https://read.qxmd.com/read/37954587/brazilian-autoimmune-encephalitis-network-brain-antibody-profile-and-clinical-characteristics-from-a-multicenter-study
#31
MULTICENTER STUDY
Bruna de Freitas Dias, Fabio Fieni Toso, Maria Eduarda Slhessarenko Fraife Barreto, René de Araújo Gleizer, Alessandra Dellavance, Pedro André Kowacs, Helio Teive, Mariana Spitz, Aline Freire Borges Juliano, Letícia Januzi de Almeida Rocha, Pedro Braga-Neto, Paulo Ribeiro Nóbrega, Jamary Oliveira-Filho, Ronaldo Maciel Dias, Clécio de Oliveira Godeiro Júnior, Fernanda Martins Maia, Rodrigo Barbosa Thomaz, Mara Lúcia Santos, Eduardo Sousa de Melo, Adaucto Wanderley da Nóbrega Júnior, Katia Lin, Orlando Graziani Povoas Barsottini, Verena Endmayr, Luís Eduardo Coelho Andrade, Romana Höftberger, Lívia Almeida Dutra
BACKGROUND: The frequency of antibodies in autoimmune encephalitis (AIE) may vary in different populations, however, data from developing countries are lacking. To describe the clinical profile of AIE in Brazil, and to evaluate seasonality and predictors of AIE in adult and pediatric patients. METHODS: We evaluated patients with possible AIE from 17 centers of the Brazilian Autoimmune Encephalitis Network (BrAIN) between 2018 and 2022. CSF and serum were tested with TBAs and CBAs...
2023: Frontiers in Immunology
https://read.qxmd.com/read/37942412/parakinesia-brachialis-oscitans-in-a-patient-with-a-first-manifestation-of-multiple-sclerosis
#32
Manuel Salavisa, Bader Mohamed, Kimberley Allen-Philbey, Andrea M Stennett, Thomas Campion, Klaus Schmierer
OBJECTIVES: Parakinesia brachialis oscitans (PBO) is the involuntary movement of an otherwise paretic upper limb triggered by yawning. We describe the first case of PBO in a patient with a first manifestation of tumefactive multiple sclerosis (MS). METHODS: A 35-year-old man presented to the emergency department with a first episode of generalized seizure. Neurologic examination revealed left-sided spastic hemiparesis, predominantly affecting his upper limb. Brain MRI showed a tumefactive right hemisphere lesion consistent with demyelination...
December 2023: Neurology. Clinical Practice
https://read.qxmd.com/read/37935110/prediction-of-breath-holding-spells-based-on-electrocardiographic-parameters-using-machine-learning-model
#33
JOURNAL ARTICLE
Mohammad Reza Khalilian, Saeed Tofighi, Elham Zohur Attar, Ali Nikkhah, Mahmoud Hajipour, Mohammad Ghazavi, Sahar Samimi
BACKGROUND: Breath-holding spells (BHS) are common in infancy and early childhood and may appear like seizures. Factors such as autonomic dysfunction and iron deficiency anemia are thought to contribute to the incidence of BHS. In this study, electrocardiographic (ECG) parameters of patients with BHS were compared to those of healthy, normal children. Logistic regression and machine-learning (ML) models were then created to predict these spells based on ECG characteristics. METHODS: In this case-control study, 52 BHS children have included as the case and 150 healthy children as the control group...
November 7, 2023: Annals of Noninvasive Electrocardiology
https://read.qxmd.com/read/37923121/altered-brain-serotonin-5-ht-1a-receptor-expression-and-function-in-juvenile-fmr1-knockout-mice
#34
JOURNAL ARTICLE
Tanishka S Saraf, Yiming Chen, Richa Tyagi, Clinton E Canal
There are no approved pharmacotherapies for fragile X syndrome (FXS), a monogenic, neurodevelopmental disorder typified by neuropsychiatric symptoms, including intellectual disability and auditory hypersensitivity. The gene that encodes inhibitory serotonin 1 A receptors (5-HT1A Rs) is differentially expressed in embryonic brain tissue from individuals with FXS, and 5-HT1A Rs are highly expressed in neural systems that are disordered in FXS, providing a rationale to focus on 5-HT1A Rs as targets to treat symptoms of FXS...
November 1, 2023: Neuropharmacology
https://read.qxmd.com/read/37918394/chimeric-autoantibody-receptor-t%C3%A2-cells-deplete-nmda-receptor-specific-b-cells
#35
JOURNAL ARTICLE
S Momsen Reincke, Niels von Wardenburg, Marie A Homeyer, Hans-Christian Kornau, Gregorio Spagni, Lucie Y Li, Jakob Kreye, Elisa Sánchez-Sendín, Sonja Blumenau, Dominik Stappert, Helena Radbruch, Anja E Hauser, Annette Künkele, Inan Edes, Dietmar Schmitz, Harald Prüss
Anti-NMDA receptor (NMDAR) autoantibodies cause NMDAR encephalitis, the most common autoimmune encephalitis, leading to psychosis, seizures, and autonomic dysfunction. Current treatments comprise broad immunosuppression or non-selective antibody removal. We developed NMDAR-specific chimeric autoantibody receptor (NMDAR-CAAR) T cells to selectively eliminate anti-NMDAR B cells and disease-causing autoantibodies. NMDAR-CAARs consist of an extracellular multi-subunit NMDAR autoantigen fused to intracellular 4-1BB/CD3ζ domains...
November 9, 2023: Cell
https://read.qxmd.com/read/37905295/respiratory-dysfunction-in-epileptic-encephalopathies-insights-and-challenges
#36
REVIEW
Muhammad Ali Khan, Shah Dev, Maneesha Kumari, Fnu Mahak, Ahmed Umair, Maham Rasool, Aneesha Kumari, Fnu Payal, Uttam Panta, Fnu Deepa, Giustino Varrassi, Mahima Khatri, Satesh Kumar
Epileptic encephalopathies constitute a group of severe epileptic disorders characterized by intractable seizures and cognitive regression. Beyond the hallmark neurological manifestations, these disorders frequently exhibit associated respiratory dysfunction, which is increasingly recognized as a critical aspect of their pathophysiology. Respiratory abnormalities in epileptic encephalopathies encompass a spectrum of manifestations, ranging from subtle alterations in breathing patterns to life-threatening events such as apneas and hypoventilation...
September 2023: Curēus
https://read.qxmd.com/read/37891764/modified-vertical-parasagittal-sub-insular-hemispherotomy-case-series-and-technical-note
#37
JOURNAL ARTICLE
Nicole Del Gaudio, Susana Ferrao Santos, Christian Raftopoulos
(1) Background: Hemispherotomy is the generally accepted treatment for hemispheric drug-resistant epilepsy (DRE). Lateral or vertical approaches are performed according to the surgeon's preference. Multiple technical variations have been proposed since Delalande first described his vertical technique. We propose a sub-insular variation of the vertical parasagittal hemispherotomy (VPH) and describe our case series of patients operated on using this procedure. (2) Methods: Data from a continuous series of patients with hemispheric DRE who were operated on by the senior author (CR) using the modified sub-insular VPH technique were analyzed retrospectively...
September 30, 2023: Brain Sciences
https://read.qxmd.com/read/37868449/seizing-the-connection-exploring-the-interplay-between-epilepsy-and-glycemic-control-in-diabetes-management
#38
REVIEW
Muhammad Daniyal Nadeem, Siraj Memon, Kashifa Qureshi, Umer Farooq, Unaib Ahmed Memon, Fnu Aparna, Meet Popatbhai Kachhadia, Fnu Shahzeen, Sameer Ali, Giustino Varrassi, Lakshya Kumar, Sumeet Kumar, Satesh Kumar, Mahima Khatri
Epilepsy, a neurological disorder characterized by recurrent seizures, and diabetes, a metabolic disorder characterized by impaired regulation of glucose levels, are two distinct conditions that may appear unrelated at first glance. Nevertheless, recent scholarly investigations have revealed these entities' intricate and ever-evolving interplay. This review initially delves into the intricate interplay between epilepsy and its potential ramifications on glycemic control. Seizures, particularly those accompanied by convulsive manifestations, have the potential to induce acute perturbations in blood glucose levels via diverse mechanisms, encompassing the liberation of stress hormones, the emergence of insulin resistance, and the dysregulation of the autonomic nervous system...
September 2023: Curēus
https://read.qxmd.com/read/37855654/-when-the-brain-dictates-the-rhythm
#39
JOURNAL ARTICLE
Andrea Burri, Nina Graf, Michael Studhalter
In rare cases, an HSV-Encephalitis can lead to sinus node dysfunction, as was the case in this 70-year old woman who suffered from recurrent syncopes. Diagnostic work-up showed sinus bradycardias and short-lasting sinus arrests, primarily consider-ed to be of cardiac etiology. After development of fever and neurological alteration, an HSV1 encephalitis was diagnosed. As our research of the current literature showed, the connection between the two is not completely clear. The HSVtypical infestation of the insular cortex, which influences the autonomic nervous system, should be discussed by all means...
August 2023: Praxis
https://read.qxmd.com/read/37840190/volumetric-gray-matter-findings-in-autonomic-network-regions-of-people-with-focal-epilepsy
#40
JOURNAL ARTICLE
Elisabeth Neuhaus, Felix Bitzer, Nina R Held, Tobias Bauer, Jennifer Gaubatz, Randi von Wrede, Tobias Baumgartner, Atilla Rácz, Vitali Becker, Rainer Surges, Theodor Rüber
BACKGROUND AND PURPOSE: Voxel-based morphometry (VBM) studies of people with focal epilepsies revealed gray matter (GM) alterations in brain regions involved in cardiorespiratory regulation, which have been linked to the risk of sudden unexpected death in epilepsy (SUDEP). It remains unclear whether the type and localization of epileptogenic lesions influence the occurrence of such alterations. METHODS: To test the hypothesis that VBM alterations of autonomic network regions are independent of epileptogenic lesions and that they reveal structural underpinnings of SUDEP risk, VBM was performed in 100 people with focal epilepsies without an epileptogenic lesion identifiable on MRI (mean age ± standard deviation = 35 ± 11 years, 56 female)...
October 15, 2023: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
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