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Bin Ren, Xiaoyan Wu, Yuqiang Zhou, Lijuan Chen, Jingzi Jiang
The SYN1 gene encodes synapsin I, variants within the SYN1 gene are linked to X-linked neurodevelopmental disorders with high clinical heterogeneity, with reflex epilepsies (REs) being a representative clinical manifestation. This report analyzes a Chinese pedigree affected by seizures associated with SYN1 variants and explores the genotype-phenotype correlation. The proband, a 9-year-old boy, experienced seizures triggered by bathing at the age of 3, followed by recurrent absence seizures, behavioral issues, and learning difficulties...
2024: Frontiers in Neurology
#2
Jill Silverman, Timothy Fenton, Olivia Haouchine, Elizabeth Hallam, Emily Smith, Roy Ben-Shalom, Kiya Jackson, Cesar Canales, Alex Nord, Anna Adhikari, Darlene Rahbarian
Disruption of SYNGAP1 directly causes a genetically identifiable neurodevelopmental disorder (NDD) called SYNGAP1-related intellectual disability (SRID). Without functional SynGAP1 protein, individuals are developmentally delayed and have prominent features of intellectual disability, motor impairments, and epilepsy. Over the past two decades, there have been numerous discoveries indicting the critical role of Syngap1. Several rodent models with a loss of Syngap1 have been engineered identifying precise roles in neuronal structure and function, as well as key biochemical pathways key for synapse integrity...
March 19, 2024: Research Square
#3
Clara Houdayer, A Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn Pais, Anne O'Donnell-Luria, Grace E VanNoy, Allan Bayat, Rikke S Møller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H Seaver, Jennifer A Sullivan, Vandana Shashi, Fowzan S Alkuraya, Alexis F Poss, J Edward Spence, Rhonda E Schnur, Ian C Forster, Chaseley E Mckenzie, Cas Simons, Min Wang, Penny Snell, Kavitha Kothur, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Daniel Henrion, Guy Lenaers, Estelle Colin, Nienke E Verbeek, Koen L Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A Reid, Katherine B Howell, Alban Ziegler, Christian Legros
Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy. To date, HCN2 variants have only been associated with mild epilepsy and recently, one monoallelic missense variant has been linked to developmental and epileptic encephalopathy. Here, we expand the phenotypic spectrum of HCN2- related disorders by describing twenty-one additional individuals from fifteen unrelated families carrying HCN2 variants...
March 22, 2024: medRxiv
#4
JOURNAL ARTICLE
Stéphane Auvin
A case study of a child with childhood absence epilepsy and hyperactivity introduces the discussion around the psychiatric diagnosis, differential considerations, and pharmacologic treatment options for ADHD/hyperactivity in children with epilepsy. Most of the time, ADHD in children with epilepsy is an inattentive form. The assessment emphasizes the need to differentiate ADHD symptoms from other psychiatric comorbidities. This is also crucial to evaluate when symptoms emerged, their impact on daily life, and if it could be a potential medication side effect...
2024: Epilepsy & behavior reports
#5
JOURNAL ARTICLE
Rivka Sukenik-Halevy, Nir Mevorach, Lina Basel-Salmon, Reut Tomashov Matar, Sarit Kahana, Kochav Klein, Ifaat Agmon-Fishman, Michal Levy, Idit Maya
INTRODUCTION: Microcephaly, characterized by abnormal head growth, can often serve as an initial indicator of congenital, genetic, or acquired disorders. In this study, we sought to evaluate the effectiveness of chromosomal microarray (CMA) testing in detecting abnormalities in both prenatal and postnatal cases of microcephaly. MATERIALS AND METHODS: CMA Testing: We conducted CMA testing on 87 prenatally-detected microcephaly cases and 742 postnatal cases at a single laboratory...
March 18, 2024: Archives of Gynecology and Obstetrics
#6
JOURNAL ARTICLE
Julien Hébert, Robert J De Santis, Lubna Daniyal, Shabber Mannan, Eduardo Ng, Emily Thain, Maria Carolina Sanabria-Salas, Raymond H Kim, Vera Bril, Aylin Y Reid
PURPOSE: Studies have shown an increased risk of epilepsy in patients with neurofibromatosis type 1 (NF1). However, most reports focus on the pediatric population. In this study, we describe the trajectory of patients with NF1 and epilepsy beyond childhood. METHODS: Patients with NF1 ≥18 years-old consecutively seen at a multidisciplinary neurofibromatosis clinic during a four-year period were prospectively enrolled and offered routine EEG, MRI, and genetic testing...
March 2, 2024: Epilepsy Research
#7
JOURNAL ARTICLE
Jerzy P Szaflarski, Hervé Besson, Wendyl D'Souza, Edward Faught, Pavel Klein, Markus Reuber, Felix Rosenow, Javier Salas-Puig, Victor Soto Insuga, Bernhard J Steinhoff, Adam Strzelczyk, Dimitrios Bourikas, Tony Daniels, Florin Floricel, David Friesen, Cédric Laloyaux, Vicente Villanueva
OBJECTIVE: To assess the effectiveness and tolerability of brivaracetam (BRV) in adults with epilepsy by specific comorbidities and epilepsy etiologies. METHODS: EXPERIENCE/EPD332 was a pooled analysis of individual patient records from several non-interventional studies of patients with epilepsy initiating BRV in clinical practice. Outcomes included ≥ 50% reduction from baseline in seizure frequency, seizure freedom (no seizures within prior 3 months), continuous seizure freedom (no seizures since baseline), BRV discontinuation, and treatment-emergent adverse events (TEAEs) at 3, 6, and 12 months...
March 4, 2024: Journal of Neurology
#8
JOURNAL ARTICLE
Yoichi Araki, Kacey E Rajkovich, Elizabeth E Gerber, Timothy R Gamache, Richard C Johnson, Thanh Hai N Tran, Bian Liu, Qianwen Zhu, Ingie Hong, Alfredo Kirkwood, Richard Huganir
SynGAP is an abundant synaptic GTPase-activating protein (GAP) critical for synaptic plasticity, learning, memory, and cognition. Mutations in SYNGAP1 in humans result in intellectual disability, autistic-like behaviors, and epilepsy. Heterozygous Syngap1 -knockout mice display deficits in synaptic plasticity, learning, and memory and exhibit seizures. It is unclear whether SynGAP imparts structural properties at synapses independently of its GAP activity. Here, we report that inactivating mutations within the GAP domain do not inhibit synaptic plasticity or cause behavioral deficits...
March 2024: Science
#9
JOURNAL ARTICLE
Geetha Vasudevan, Robyn Filipink, Jenna Gaesser, Traci M Kazmerski, Yoshimi Sogawa, Laura Kirkpatrick
OBJECTIVE: To explore the experiences and preferences of parents/guardians of adolescents and young adults (AYA) of childbearing potential with co-occurring epilepsy and intellectual disability (ID) regarding counseling by neurologists on sexual and reproductive health (SRH) topics such as pregnancy, contraception, menstruation, and folic acid supplementation. METHODS: We conducted semi-structured interviews with parents/guardians of AYAs (12-28 years old) of childbearing potential with co-occurring epilepsy and ID, recruited from a tertiary-care children's hospital...
January 25, 2024: Epilepsy & Behavior: E&B
#10
JOURNAL ARTICLE
Richard Shek-Kwan Chang, Shani Nguyen, Zhibin Chen, Emma Foster, Patrick Kwan
INTRODUCTION: Machine learning is a rapidly expanding field and is already incorporated into many aspects of medicine including diagnostics, prognostication and clinical decision-support tools. Epilepsy is a common and disabling neurological disorder, however, management remains challenging in many cases, despite expanding therapeutic options. We present a systematic review protocol to explore the role of machine learning in the management of epilepsy. METHODS AND ANALYSIS: This protocol has been drafted with reference to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) for Protocols...
January 25, 2024: BMJ Open
#11
JOURNAL ARTICLE
Emma Casey, Christine Linehan
Epilepsy affects approximately 25 % of people with intellectual disability (ID). Despite this high prevalence, evidence of health disparity exists in healthcare access and health outcomes for this population. Patients with ID experience additional challenges in accessing appropriate epilepsy care, and are at greater risk of experiencing inappropriate prescribing, polypharmacy and misdiagnosis compared with the general population. The expectations, attitudes and actions of physicians are key in addressing health inequalities, particularly those which disproportionately impact a specific group of patients, such as patients with ID and epilepsy...
January 24, 2024: Epilepsy & Behavior: E&B
#12
JOURNAL ARTICLE
Brian C Liu, Grant L Iverson, Nathan E Cook, Philip Schatz, Paul Berkner, Charles E Gaudet
Objective: Valid performance on preseason baseline neurocognitive testing is essential for accurate comparison between preseason and post-concussion test results. Immediate Post-Concussion and Cognitive Testing (ImPACT) is commonly used to measure baseline neurocognitive function in athletes. We examined the prevalence of invalid performance on ImPACT baseline testing and identified correlates of invalid performance. Method: The sample included 66,998 adolescents (ages 14-18, M = 15.51 years, SD = 1...
January 17, 2024: Clinical Neuropsychologist
#13
JOURNAL ARTICLE
Long-term predictors of developmental outcome and disease burden in SCN1A -positive Dravet syndrome.
Tony Feng, Phoebe Makiello, Benjamin Dunwoody, Felix Steckler, Joseph D Symonds, Sameer M Zuberi, Liam Dorris, Andreas Brunklaus
Dravet syndrome is a severe infantile onset developmental and epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene SCN1A . Prospective data on long-term developmental and clinical outcomes are limited; this study seeks to evaluate the clinical course of Dravet syndrome over a 10-year period and identify predictors of developmental outcome. SCN1A mutation-positive Dravet syndrome patients were prospectively followed up in the UK from 2010 to 2020. Caregivers completed structured questionnaires on clinical features and disease burden; the Epilepsy & Learning Disability Quality of Life Questionnaire, the Adaptive Behavioural Assessment System-3 and the Sleep Disturbance Scale for Children...
2024: Brain communications
#14
JOURNAL ARTICLE
M Taha, S Hanif, G Dickson, J Todd, D Fyfe, S MacBride-Stewart, R Hassett, A D Marshall, C A Heath
BACKGROUND: An epilepsy-related attendance at A&E is associated an increased risk of subsequent death within 6 months. Although further work is required to provide a definitive explanation to account for these findings, in the interim it would seem reasonable that services are designed to ensure timely access and provide support at a time of greatest risk. We aim to determine the frequency of patients accessing specialist neurology services following an epilepsy-related admission/unscheduled care episode and consider ASM adherence at the point of attendance...
February 2024: Seizure: the Journal of the British Epilepsy Association
#15
REVIEW
Jaana Lähdetie, Miguel Muñoz-Ruiz, Hannu Kokki
Infantile Epileptic Spasms Syndrome (IESS) is an epileptic encephalopathy in childhood that affects infants under the age of two years. When spasm series occur, prognosis for cognitive outcome is poor in the majority of cases. The encephalopathy in IESS includes delayed maturation of normal sleep phenomena in the EEG, such as sleep spindles. Children with intellectual disabilities often have abnormal sleep, and children with sleep problems have difficulties learning at school. We examined whether there is evidence of prognostic value of detection of sleep spindles in the EEG of children with IESS on their future cognitive development...
December 20, 2023: Epileptic Disorders: International Epilepsy Journal with Videotape
#16
JOURNAL ARTICLE
Thorsten Gerstner, Oliver Henning, Gro Løhaugen, Jon Skranes
BACKGROUND: Fetal alcohol spectrum disorder (FASD) describes a combination of developmental, cognitive and behavioural disabilities that that occur in children exposed to prenatal alcohol. Higher prevalence of epilepsy and pathological electroencephalography (EEG) have been reported. Our study aimed to examine the frequency of epilepsy, pathological EEG findings and its possible implication on cognitive and adaptive functioning. METHODS: We conducted a cross-sectional study on 148 children with FASD...
December 17, 2023: Alcohol Clin Exp Res (Hoboken)
#17
JOURNAL ARTICLE
Li Du, Xuan He, Xiaoxing Xiong, Xu Zhang, Zhihong Jian, Zhenxing Yang
Stroke is a major disorder of the central nervous system that poses a serious threat to human life and quality of life. Many stroke victims are left with long-term neurological dysfunction, which adversely affects the well-being of the individual and the broader socioeconomic impact. Currently, post-stroke brain dysfunction is a major and difficult area of treatment. Vagus nerve stimulation is a Food and Drug Administration-approved exploratory treatment option for autism, refractory depression, epilepsy, and Alzheimer's disease...
August 1, 2024: Neural Regeneration Research
#18
JOURNAL ARTICLE
Björn Bjurulf, Colin Reilly, Tove Hallböök
OBJECTIVE: The aim of this population-based study was to assess behavior, sleep, and quality of life, and explore factors associated with these in children with Dravet syndrome. METHODS: The Developmental Behavior Checklist, the Insomnia Severity Index, and a global question regarding quality of life from the Epilepsy and Learning Disabilities Quality of Life scale were completed by primary caregivers of 42/48 Swedish children with Dravet syndrome, born 2000-2018...
December 9, 2023: Epilepsy & Behavior: E&B
#19
Kaoru Eto, Rina Itagaki, Ayumi Takamura, Yoshikatsu Eto, Satoru Nagata
Neuronal ceroid lipofuscinosis type1(CLN1), is a one form of the group of neuronal ceroid lipofuscinoses (NCLs), which is a neurodegenerative disorder characterized by progressive psychomotor deterioration, ataxia, epilepsy, and visual impairment. Neurological manifestations occur at a wide range of ages, from infancy to adulthood, but are most common in infancy. The prevalence of CLN1 is unclear; however, it is very rare in Japan and Europe. In Japan, only a few cases have been reported, two of infantile- and one of juvenile-onset type...
December 2023: Molecular Genetics and Metabolism Reports
#20
JOURNAL ARTICLE
R Laugharne, M Wilcock, J Rees, D Wainwright, N Newton, J Sterritt, S Badger, R Bishop, P Bassett, R Shankar
BACKGROUND: People with intellectual disabilities (ID) die on an average 20 years earlier to the general population. They have higher rates of multimorbidity and polypharmacy. Around 25% of people with ID report chronic constipation. The England Learning Disabilities Mortality Review found that nearly 25% of deaths identified constipation as a long-term health problem. However, the likely risk factors for constipation related harm are poorly enumerated. We sought to identify possible specific high-risk factors by examining the clinical characteristics of people with ID admitted to hospital with constipation...
November 30, 2023: Journal of Intellectual Disability Research: JIDR
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