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Kłaniewska M, Rydzanicz M, Bladowska J, Borys-Iwanicka A, Iwanicka-Pronicka K, Wasilewski R, Odnoczko E, Zubkiewicz-Kucharska A, Smigiel R, Ploski R
Monoallelic pathogenic HMBS variants are a well-established cause of acute intermittent porphyria (AIP), whereas biallelic pathogenic variants may cause HMBS-related leukoencephalopathy which remains a poorly characterized disorder. We describe an 8-year-old girl with hypotonia, hearing impairment, horizontal nystagmus, bilateral strabismus, impaired visual acuity, and optic nerve atrophy. She had no epilepsy but sleep electroencephalogram showed paroxysmal changes in the right hemisphere with secondary generalizations...
April 3, 2024: American Journal of Medical Genetics. Part A
#22
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
#23
JOURNAL ARTICLE
Michael LoPresti, Ataru Igarashi, Yaoki Sonohara, Sally Bowditch
INTRODUCTION: Lennox-Gastaut syndrome (LGS), Dravet syndrome (DS), and tuberous sclerosis complex (TSC)-associated epilepsy are rare conditions associated with severe childhood-onset epilepsy. Caregivers play a critical role in the patients' care and may experience significant psychosocial and socioeconomic burden. This cross-sectional study determined the burden of caring for patients with these rare epilepsy conditions in Japan. METHODS: A quantitative online survey was used to assess patients' and caregivers' characteristics and the caregivers' emotional state, among others...
March 30, 2024: Epilepsy & Behavior: E&B
#24
JOURNAL ARTICLE
Neşe İşcan Ayyildiz, Nuray Bingöl
PURPOSE: The study was conducted to determine the effects of Progressive Relaxation Exercise, supported by mobile-based animation, on fatigue and sleep quality of individuals with epilepsy. MATERIAL-METHOD: The study was conducted in a randomized controlled design with a pretest-posttest model on epileptic individuals who applied to Giresun University, Faculty of Medicine, Neurology Outpatient Clinic between February and December 2022. By using power analysis, the sample of the study was determined as 60 epilepsy patients (30 in the Control Group, 30 in the Experimental Group)...
March 29, 2024: Epilepsy & Behavior: E&B
#25
JOURNAL ARTICLE
Zhongling Wu, Xiaolei Li, Yuanxin Huang, Kailing Huang, Bo Xiao, Yunfang Chi, Li Feng, Haojun Yang
BACKGROUND: This study aimed to evaluate the effects of a nurse-led cognitive behavioral intervention for parents of children with epilepsy (CWE). METHODS: The study recruited 238 CWE from the neurology ward of Xiangya Hospital from March 2019 to August 2022. According to the interventions after discharge, the children and their parents were randomly divided into 117 parent-child dyads in the intervention group and 121 parent-child dyads in the control group. The seizure severity and treatment compliance in CWE as well as the parents' psychological states and satisfaction with the care provided by nurses were compared before and after intervention...
March 7, 2024: Pediatric Neurology
#26
JOURNAL ARTICLE
Shebani Sethi, Diane Wakeham, Terrance Ketter, Farnaz Hooshmand, Julia Bjornstad, Blair Richards, Eric Westman, Ronald M Krauss, Laura Saslow
The ketogenic diet (KD, also known as metabolic therapy) has been successful in the treatment of obesity, type 2 diabetes, and epilepsy. More recently, this treatment has shown promise in the treatment of psychiatric illness. We conducted a 4-month pilot study to investigate the effects of a KD on individuals with schizophrenia or bipolar disorder with existing metabolic abnormalities. Twenty-three participants were enrolled in a single-arm trial. Results showcased improvements in metabolic health, with no participants meeting metabolic syndrome criteria by study conclusion...
March 20, 2024: Psychiatry Research
#27
JOURNAL ARTICLE
Xiufeng Wang, Yanling Zhang, Ruixue Sun, Na Kong
OBJECTIVE: To explore risk factors of electrical status epilepticus during sleep in children with benign childhood epilepsy with centro-temporal spikes (BECT). METHODS: This is a clinical comparative study. The subjects of study were 67 children with BECT from the Outpatient Department of Pediatric Neurology in Xingtai People's Hospital from January 2019 to January 2022. According to the occurrence of ESES, the enrolled children were divided into control group which included BECT children without ESES and the observation group which included BECT children with ESES...
2024: Pakistan Journal of Medical Sciences Quarterly
#28
JOURNAL ARTICLE
Gürkan Yilmaz, Andrea Seiler, Olivier Chételat, Kaspar A Schindler
Epilepsy is characterized by the occurrence of epileptic events, ranging from brief bursts of interictal epileptiform brain activity to their most dramatic manifestation as clinically overt bilateral tonic-clonic seizures. Epileptic events are often modulated in a patient-specific way, for example by sleep. But they also reveal temporal patterns not only on ultra- and circadian, but also on multidien scales. Thus, to accurately track the dynamics of epilepsy and to thereby enable and improve personalized diagnostics and therapies, user-friendly systems for long-term out-of-hospital recordings of electrical brain signals are needed...
March 14, 2024: Sensors
#29
JOURNAL ARTICLE
Lorenzo Muccioli, Giulia Bruschi, Lorenzo Ferri, Anna Scarabello, Lisa Taruffi, Lidia Di Vito, Barbara Mostacci, Federica Provini, Giovanna Calandra-Buonaura, Paolo Tinuper, Laura Licchetta, Francesca Bisulli
Background : Ictal bradycardia (IB) and asystole (IA) represent a rare but potentially harmful feature of epileptic seizures. The aim of this study was to study IB/IA in patients with sleep-related hypermotor epilepsy (SHE). Methods : We retrospectively included cases with video-EEG-confirmed SHE who attended our Institute up to January 2021. We reviewed the ictal polysomnography recordings focusing on ECG and identified cases with IB (R-R interval ≥ 2 s or a ≥10% decrease of baseline heart rate) and IA (R-R interval ≥ 4 s)...
March 19, 2024: Journal of Clinical Medicine
#30
JOURNAL ARTICLE
Bilge Özgör, Neslihan Cansel
BACKGROUND: Parents of a child with neurological problems such as seizures and epilepsy experience significant mental distress. Little is known about the mental state of parents in such a stressful situation. This study aims to determine the prevalence of self-reported depression, anxiety, sleep disorders, and quality of life in parents of children with epilepsy and first unprovoked seizure. METHODS: This cross-sectional study was conducted among the parents of children diagnosed with first unprovoked seizure and epilepsy admitted to the Pediatric Neurology Department, Outpatient Unit of İnönü University Medical Faculty Hospital...
2024: Turkish Journal of Pediatrics
#31
JOURNAL ARTICLE
Özlem Gülpınar Aydın, Hüseyin Burak Baykara, Kardelen Akın, Sinem Kahveci, Gül Şeker, Yunus Güler, Yeşim Öztürk
BACKGROUND: Gastrointestinal system disorders are known to be prevalent among children with autism spectrum disorder (ASD). Some ASD-associated comorbidities are abdominal pain, constipation, diarrhea, gastroesophageal reflux, sleep disturbances, epilepsy, and psychiatric problems. Nonetheless, there is still limited information about the presence of functional GI disorders (FGIDs) among children with ASD, especially in Türkiye. Using the Rome criteria, we aimed to investigate FGIDs in children with ASD...
2024: Turkish Journal of Pediatrics
#32
JOURNAL ARTICLE
Chantel M Charlebois, Daria Nesterovich Anderson, Elliot H Smith, Tyler S Davis, Blake J Newman, Angela Y Peters, Amir M Arain, Alan D Dorval, John D Rolston, Christopher R Butson
OBJECTIVES: Responsive neurostimulation (RNS) is an established therapy for drug-resistant epilepsy that delivers direct electrical brain stimulation in response to detected epileptiform activity. However, despite an overall reduction in seizure frequency, clinical outcomes are variable, and few patients become seizure-free. The aim of this retrospective study was to evaluate aperiodic electrophysiological activity, associated with excitation/inhibition balance, as a novel electrographic biomarker of seizure reduction to aid early prognostication of the clinical response to RNS...
March 22, 2024: Epilepsia
#33
JOURNAL ARTICLE
Lisi Yan, Jin Chen, Lingling Xie, Tianyi Li, Yue Hu, Siqi Hong, Li Jiang
BACKGROUND: Although sleep quality (SQ) reportedly affects the health-related quality of life (QOL) of patients with epilepsy, little is known about the potential association between SQ and QOL, particularly in children with epilepsy (CWE). Our study aimed to investigate the mediating effect of SQ on the QOL of CWE to obtain more information for the prevention and treatment of epilepsy in children. METHODS: We collected general demographic and clinical data of 212 CWE and 79 controls (children who visited the Health Examination Department), and their guardians were instructed to answer the Children's Sleep Habits Questionnaire (CSHQ) and the optimized Quality of Life in Childhood Epilepsy Questionnaire-16 (QOLCE-16)...
March 20, 2024: Epilepsy & Behavior: E&B
#34
JOURNAL ARTICLE
Amber Postma, Crista A Minderhoud, Wim M Otte, Floor E Jansen, W B Gunning, Judith S Verhoeven, Marian J Jongmans, Janneke R Zinkstok, Eva H Brilstra
BACKGROUND: A pathogenic variant in SCN1A can result in a spectrum of phenotypes, including Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS + ) syndrome. Dravet syndrome (DS) is associated with refractory seizures, developmental delay, intellectual disability (ID), motor impairment, and challenging behavior(1,2). GEFS + is a less severe phenotype in which cognition is often normal and seizures are less severe. Challenging behavior largely affects quality of life of patients and their families...
March 20, 2024: Epilepsy & Behavior: E&B
#35
JOURNAL ARTICLE
Alwan Iktimal, Dennis D Spencer, Rafeed Alkawadri
Using 6-minute free-running intracranial-electroencephalogram (icEEG) during sleep, an optimized multilayer perceptron (MLP) neural network accurately maps the sensorimotor cortex (SM) and identifies the anterior lip of the central sulcus (CS) in intractable epilepsy patients. We calculated 6 performance metrics to evaluate the MLP's efficacy: accuracy, area under the curve (AUC), recall, precision, F1-scores, and specificity. Each layer had 4 neurons with hyperbolic TanH activation function and 4 with Gaussian distribution function...
March 20, 2024: Annals of Neurology
#36
REVIEW
Oliver Henning, Rune Markhus, Eva Elisabeth Jansen Dornish, Konstantin Hrisimirov Kostov, Fridny Heimisdottir, Karl O Nakken
In some forms of epilepsy, the seizures occur almost exclusively during sleep. This is particularly the case with hypermotor frontal lobe seizures. Clinically it can be difficult to distinguish such seizures from parasomnias and psychogenic non-epileptic seizures. This clinical review article aims to highlight the importance of making the correct diagnosis, as these conditions require completely different treatment.
March 19, 2024: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
#37
JOURNAL ARTICLE
Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María Del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María Del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero
SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals. Standardized questionnaires were employed to collect clinical, electroencephalographic and genetic data...
2024: Frontiers in Cell and Developmental Biology
#38
JOURNAL ARTICLE
Péter Halász, Péter Simor, Anna Szűcs
We consider the disorders of arousal and sleep-related hypermotor epilepsy as genetic twin-conditions, one without, one with epilepsy. They share an augmented arousal-activity during NREM sleep with sleep-wake dissociations, culminating in sleep terrors and sleep-related hypermotor seizures with similar symptoms. The known mutations underlying the two spectra are different, but there are multifold population-genetic-, family- and even individual (the two conditions occurring in the same person) overlaps supporting common genetic roots...
2024: Psychiatria Hungarica: A Magyar Pszichiátriai Társaság Tudományos Folyóirata
#39
Valerio Simonelli, Anna Rita Ferrari, Roberta Battini, Paola Brovedani, Emanuele Bartolini
INTRODUCTION: Pathogenic variants of the MTOR gene result in the Smith-Kingsmore syndrome, whose phenotypical spectrum includes facial dysmorphisms and neurological features. Expressivity is variable, patients exhibit a combination of intellectual disability, macrocephaly and epilepsy. The diagnosis can be missed, failing to detect the causative pathogenic mutation in patients with somatic mosaicism or even skipping to analyze MTOR when the phenotype is not completely expressed. CASE STUDY: Herein, we report two children harboring the same MTOR recurring mutation (c...
2024: Clinical Neurophysiology Practice
#40
JOURNAL ARTICLE
Pirgit Meritam Larsen, Stephan Wüstenhagen, Daniella Terney, Elena Gardella, Harald Aurlien, Sándor Beniczky
OBJECTIVE: Recording seizures on video-EEG has a high diagnostic value. However, bilateral convulsive seizures constitute a risk for the patients. Our aim was to investigate the diagnostic yield and associated risks of provocation methods in short-term video-EEGs. METHODS: We extracted data on seizures and provocation methods from a large database of short-term video-EEGs with standardized annotations using SCORE (Standardized Computer-based Organized reporting of EEG)...
March 16, 2024: Epileptic Disorders: International Epilepsy Journal with Videotape
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