keyword
https://read.qxmd.com/read/38229148/the-impact-of-damaging-epilepsy-and-cardiac-genetic-variant-burden-in-sudden-death-in-the-young
#21
JOURNAL ARTICLE
Megan J Puckelwartz, Lorenzo L Pesce, Edgar J Hernandez, Gregory Webster, Lisa M Dellefave-Castillo, Mark W Russell, Sarah S Geisler, Samuel D Kearns, Felix Karthik, Susan P Etheridge, Tanner O Monroe, Tess D Pottinger, Prince J Kannankeril, M Benjamin Shoemaker, Darlene Fountain, Dan M Roden, Meghan Faulkner, Heather M MacLeod, Kristin M Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L George, Elizabeth M McNally
BACKGROUND: Sudden unexpected death in children is a tragic event. Understanding the genetics of sudden death in the young (SDY) enables family counseling and cascade screening. The objective of this study was to characterize genetic variation in an SDY cohort using whole genome sequencing. METHODS: The SDY Case Registry is a National Institutes of Health/Centers for Disease Control and Prevention surveillance effort to discern the prevalence, causes, and risk factors for SDY...
January 16, 2024: Genome Medicine
https://read.qxmd.com/read/38225589/a-phase-ib-ii-randomized-open-label-drug-repurposing-trial-of-glutamate-signaling-inhibitors-in-combination-with-chemoradiotherapy-in-patients-with-newly-diagnosed-glioblastoma-the-gluglio-trial-protocol
#22
JOURNAL ARTICLE
Maximilian Mastall, Patrick Roth, Andrea Bink, Angela Fischer Maranta, Heinz Läubli, Andreas Felix Hottinger, Thomas Hundsberger, Denis Migliorini, Adrian Ochsenbein, Katharina Seystahl, Lukas Imbach, Tibor Hortobagyi, Leonhard Held, Michael Weller, Hans-Georg Wirsching
BACKGROUND: Glioblastoma is the most common and most aggressive malignant primary brain tumor in adults. Glioblastoma cells synthesize and secrete large quantities of the excitatory neurotransmitter glutamate, driving epilepsy, neuronal death, tumor growth and invasion. Moreover, neuronal networks interconnect with glioblastoma cell networks through glutamatergic neuroglial synapses, activation of which induces oncogenic calcium oscillations that are propagated via gap junctions between tumor cells...
January 15, 2024: BMC Cancer
https://read.qxmd.com/read/38212777/identification-of-potential-crucial-genes-and-therapeutic-targets-for-epilepsy
#23
JOURNAL ARTICLE
Shitao Wang, Zhenrong Xie, Tian Jun, Xuelu Ma, Mengen Zhang, Feng Rao, Hui Xu, Jinghong Lu, Xiangqian Ding, Zongyou Li
BACKGROUND: Epilepsy, a central neurological disorder, has a complex genetic architecture. There is some evidence suggesting that genetic factors play a role in both the occurrence of epilepsy and its treatment. However, the genetic determinants of epilepsy are largely unknown. This study aimed to identify potential therapeutic targets for epilepsy. METHODS: Differentially expressed genes (DEGs) were extracted from the expression profiles of GSE44031 and GSE1834...
January 11, 2024: European Journal of Medical Research
https://read.qxmd.com/read/38203562/valproic-acid-in-pregnancy-revisited-neurobehavioral-biochemical-and-molecular-changes-affecting-the-embryo-and-fetus-in-humans-and-in-animals-a-narrative-review
#24
REVIEW
Asher Ornoy, Boniface Echefu, Maria Becker
Valproic acid (VPA) is a very effective anticonvulsant and mood stabilizer with relatively few side effects. Being an epigenetic modulator, it undergoes clinical trials for the treatment of advanced prostatic and breast cancer. However, in pregnancy, it seems to be the most teratogenic antiepileptic drug. Among the proven effects are congenital malformations in about 10%. The more common congenital malformations are neural tube defects, cardiac anomalies, urogenital malformations including hypospadias, skeletal malformations and orofacial clefts...
December 27, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/38186198/neurological-involvement-in-patients-with-primary-immunodeficiency
#25
JOURNAL ARTICLE
Hulya Kose, Zuhal Karali, Muhittin Bodur, Sukru Cekic, Sara Sebnem Kilic
INTRODUCTION: Primary immunodeficiency diseases (PID) are defined by recurrent infections, allergies, autoimmunity, and malignancies. Neurologic symptoms are one of the major components of some immunodeficiency syndromes, such as Ataxia-Telangiectasia (AT), Nijmegen breakage syndrome (NBS), and Purine Nucleoside Phosphorylase (PNP) deficiency, which are considered as the primary involvement. Various pathological mechanisms, DNA repair disorders, metabolic abnormalities, and autoimmune phenomena have also been linked with neurological conditions...
2024: Allergologia et Immunopathologia
https://read.qxmd.com/read/38156083/case-report-a-case-of-primary-angiitis-of-the-central-nervous-system-misdiagnosed-for-3-5-years
#26
Lixia Qin, Miao He, Wei Lu
INTRODUCTION: Primary angiitis of the central nervous system (PACNS) is an uncommon inflammatory condition that exclusively affects blood vessels within the brain parenchyma, leptomeninges, and spinal cord. Due to its infrequency and the variability in its clinical presentation and imaging findings, diagnosing PACNS can be challenging. CASE DESCRIPTION: In this study, we present the case of a teenager who initially presented with headaches and epilepsy. Comprehensive laboratory tests yield normal results...
2023: Frontiers in Neurology
https://read.qxmd.com/read/38149038/somatic-mosaicism-in-pik3ca-variant-correlates-with-stereoelectroencephalography-derived-electrophysiology
#27
JOURNAL ARTICLE
H Westley Phillips, Alissa M D'Gama, Yilan Wang, Yasmine Chahine, Michelle Chiu, Amanda C Swanson, Banu Ahtam, Jeffrey B Bolton, Joseph R Madsen, Eunjung A Lee, Sanjay P Prabhu, Hart G Lidov, Joanna Papadakis, August Y Huang, Annapurna Poduri, Scellig S Stone, Christopher A Walsh
OBJECTIVES: Brain-limited pathogenic somatic variants are associated with focal pediatric epilepsy, but reliance on resected brain tissue samples has limited our ability to correlate epileptiform activity with abnormal molecular pathology. We aimed to identify the pathogenic variant and map variant allele fractions (VAFs) across an abnormal region of epileptogenic brain in a patient who underwent stereoelectroencephalography (sEEG) and subsequent motor-sparing left frontal disconnection...
February 2024: Neurology. Genetics
https://read.qxmd.com/read/38145842/epigenetic-regulation-in-epilepsy-a-novel-mechanism-and-therapeutic-strategy-for-epilepsy
#28
REVIEW
Shuang Chen, Ming Huang, Da Xu, Man Li
Epilepsy is a common neurological disorder characterized by recurrent seizures with excessive and abnormal neuronal discharges. Epileptogenesis is usually involved in neuropathological processes such as ion channel dysfunction, neuronal injury, inflammatory response, synaptic plasticity, gliocyte proliferation and mossy fiber sprouting, currently the pathogenesis of epilepsy is not yet completely understood. A growing body of studies have shown that epigenetic regulation, such as histone modifications, DNA methylation, noncoding RNAs (ncRNAs), N6-methyladenosine (m6A) and restrictive element-1 silencing transcription factor/neuron-restrictive silencing factor (REST/NRSF) are also involved in epilepsy...
December 23, 2023: Neurochemistry International
https://read.qxmd.com/read/38125503/chd2-pathogenic-nonsense-variant-in-a-three-generation-family-with-variable-phenotype-and-a-paracentric-inversion-16-case-report
#29
Eleni Angelopoulou, Athina Theodosiou, Ioannis Papaevripidou, Angelos Alexandrou, Thomas Liehr, Yolanda Gyftodimou, Eunice G Stefanou, Carolina Sismani
Chromosomal inversions are usually balanced structural chromosomal rearrangements that do not have an impact on the clinical phenotype of a carrier. The main clinical consequence of inversions is the risk for unbalanced gametes and offspring with severe phenotypes. Rarely though, inversions are associated with a phenotype, mainly due to submicroscopic Copy Number Variants (CNVs) or disruption at the breakpoints of a functionally important gene and/or genomic elements. In this study, a paracentric inversion of chromosome 16 [inv(16)(q22...
December 2023: Heliyon
https://read.qxmd.com/read/38106588/quantitative-analysis-of-mitochondrial-dna-heteroplasmy-in-urinary-podocytes-of-myoclonus-epilepsy-with-ragged-red-fibers-syndrome
#30
JOURNAL ARTICLE
Miwa Goto, Emi Sawanobori, Takeshi Inukai, Shuji Hirata, Tadashi Mabuchi
No abstract text is available yet for this article.
December 2023: KI Reports
https://read.qxmd.com/read/38057018/one-advantageous-reflection-of-iron-metabolism-in-context-of-normal-physiology-and-pathological-phases
#31
REVIEW
Niraj Kumar Srivastava, Somnath Mukherjee, Vijaya Nath Mishra
PURPOSE (BACKGROUND): The presented review is an updating of Iron metabolism in context of normal physiology and pathological phases. Iron is one of the vital elements in humans and associated into proteins as a component of heme (e.g. hemoglobin, myoglobin, cytochromes proteins, myeloperoxidase, nitric oxide synthetases), iron sulfur clusters (e.g. respiratory complexes I-III, coenzyme Q10, mitochondrial aconitase, DNA primase), or other functional groups (e.g. hypoxia inducible factor prolyl hydroxylases)...
December 2023: Clinical Nutrition ESPEN
https://read.qxmd.com/read/37994140/-analysis-of-genetic-variants-in-a-child-with-intellectual-developmental-disorder-with-behavioral-abnormalities-and-craniofacial-dysmorphism-without-seizures
#32
JOURNAL ARTICLE
Jiao Tong, Tao Wang, Leilei Wang, Dongmei Yan
OBJECTIVE: To explore the clinical phenotype and genetic characteristics of a child with Intellectual developmental disorder with behavioral abnormalities and craniofacial malformations without epilepsy (IDDBCS). METHODS: A child who had visited the Lianyungang Maternal and Child Health Care Hospital in April 2021 was selected as the study subject. Clinical data of the child were collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents and subjected to whole exome sequencing (WES)...
December 10, 2023: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://read.qxmd.com/read/37965182/ana-negative-severe-lupus-like-presentation-is-it-lupus-or-not
#33
Shuangxi Li, Qi Bian
KEY CLINICAL MESSAGE: Systemic lupus erythematosus is difficult to diagnose in patients who are antinuclear antibody (ANA) negative and lack typical clinical manifestations. For such patient who presented ANA-negative severe lupus-like manifestations, the diagnosis and treatment are a huge challenge. Histological findings may provide clues to diagnosis. ABSTRACT: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease characterized by formation of autoantibodies to nuclear and cytoplasmic antigens...
November 2023: Clinical Case Reports
https://read.qxmd.com/read/37947183/biallelic-creld1-variants-cause-a-multisystem-syndrome-including-neurodevelopmental-phenotypes-cardiac-dysrhythmias-and-frequent-infections
#34
JOURNAL ARTICLE
Lauren Jeffries, Emily K Mis, Kirsty McWalter, Sandra Donkervoort, Nina N Brodsky, Jean-Marie Carpier, Weizhen Ji, Cristian Ionita, Bhaskar Roy, Jon S Morrow, Armine Darbinyan, Krishna Iyer, Ritu B Aul, Siddharth Banka, Katherine R Chao, Laura Cobbold, Stacey Cohen, Helena M Custodio, Margaret Drummond-Borg, Frances Elmslie, Erika Finanger, Bryan E Hainline, Ingo Helbig, Stacy Hewson, Ying Hu, Adam Jackson, Dragana Josifova, Monica Konstantino, Meganne E Leach, Bryan Mak, David McCormick, Elisabeth McGee, Stanley Nelson, Joanne Nguyen, Kimberly Nugent, Lucy Ortega, Howard P Goodkin, Elizabeth Roeder, Sani Roy, Katie Sapp, Dimah Saade, Sanjay M Sisodiya, Karen Stals, Shelley Towner, William Wilson, Mustafa K Khokha, Carsten G Bönnemann, Carrie L Lucas, Saquib A Lakhani
PURPOSE: We sought to delineate a multisystem disorder caused by recessive CRELD1 variants. METHODS: The impact of CRELD1 variants was characterized through an international collaboration utilizing next generation DNA sequencing, gene knockdown and protein overexpression in Xenopus tropicalis, and in vitro analysis of patient immune cells. RESULTS: Biallelic variants in CRELD1 were found in 18 participants from 14 families. Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections...
November 6, 2023: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://read.qxmd.com/read/37946310/deep-histopathology-genotype-phenotype-analysis-of-focal-cortical-dysplasia-type-ii-differentiates-between-the-gator1-altered-autophagocytic-subtype-iia-and-mtor-altered-migration-deficient-subtype-iib
#35
JOURNAL ARTICLE
Jonas Honke, Lucas Hoffmann, Roland Coras, Katja Kobow, Costin Leu, Tom Pieper, Till Hartlieb, Christian G Bien, Friedrich Woermann, Thomas Cloppenborg, Thilo Kalbhenn, Ahmed Gaballa, Hajo Hamer, Sebastian Brandner, Karl Rössler, Arnd Dörfler, Stefan Rampp, Johannes R Lemke, Sara Baldassari, Stéphanie Baulac, Dennis Lal, Peter Nürnberg, Ingmar Blümcke
Focal cortical dysplasia type II (FCDII) is the most common cause of drug-resistant focal epilepsy in children. Herein, we performed a deep histopathology-based genotype-phenotype analysis to further elucidate the clinico-pathological and genetic presentation of FCDIIa compared to FCDIIb. Seventeen individuals with histopathologically confirmed diagnosis of FCD ILAE Type II and a pathogenic variant detected in brain derived DNA whole-exome sequencing or mTOR gene panel sequencing were included in this study...
November 9, 2023: Acta Neuropathologica Communications
https://read.qxmd.com/read/37946105/identification-of-ferroptosis-related-genes-in-acute-phase-of-temporal-lobe-epilepsy-based-on-bioinformatic-analysis
#36
JOURNAL ARTICLE
Shihao Chen, Xing Jin, Tao He, Mulan Zhang, Huiqin Xu
BACKGROUND: Epilepsy is a prevalent neurological disorder, and while its precise mechanism remains elusive, a connection to ferroptosis has been established. This study investigates the potential clinical diagnostic significance of ferroptosis-related genes (FRGs) during the acute phase of temporal lobe epilepsy. METHODS: To identify differentially expressed genes (DEGs), we accessed data from the GEO database and performed an intersection analysis with the FerrDB database to pinpoint FRGs...
November 9, 2023: BMC Genomics
https://read.qxmd.com/read/37943122/a-5-year-old-boy-with-super-refractory-status-epilepticus-and-ranbp2-variant-warranting-life-saving-hemispherotomy
#37
JOURNAL ARTICLE
Barbora Straka, Miroslav Koblížek, Barbora Heřmanovská, Radka Valkovičová, Lenka Krsková, Markéta Kalinová, Markéta Vlčková, Josef Zámečník, Petra Laššuthová, Lucie Sedláčková, David Staněk, Alice Maulisová, Michal Tichý, Martin Kynčl, Pavel Kršek
Focal cortical dysplasia (FCD) represents the most common cause of drug-resistant epilepsy in adult and pediatric surgical series. However, genetic factors contributing to severe phenotypes of FCD remain unknown. We present a patient with an exceptionally rapid development of drug-resistant epilepsy evolving in super-refractory status epilepticus. We performed multiple clinical (serial EEG, MRI), biochemical (metabolic and immunological screening), genetic (WES from blood- and brain-derived DNA) and histopathological investigations...
November 9, 2023: Epilepsia Open
https://read.qxmd.com/read/37931884/neuronal-mecp2-in-the-dentate-gyrus-regulates-mossy-fiber-sprouting-of-mice-with-temporal-lobe-epilepsy
#38
JOURNAL ARTICLE
Yu Chen, Xiao-Lin Wu, Hai-Bo Hu, Shu-Nan Yang, Zi-Yi Zhang, Guan-Ling Fu, Chu-Tong Zhang, Zi-Meng Li, Feng Wu, Kai-Wei Si, Yan-Bing Ma, Sheng-Feng Ji, Jin-Song Zhou, Xiao-Yong Ren, Xin-Li Xiao, Jian-Xin Liu
Sprouting of mossy fibers, one of the most consistent findings in tissue from patients with mesial temporal lobe epilepsy, exhibits several uncommon axonal growth features and has been considered a paradigmatic example of circuit plasticity that occurs in the adult brain. Clarifying the mechanisms responsible may provide new insight into epileptogenesis as well as axon misguidance in the central nervous system. Methyl-CpG-binding protein 2 (MeCP2) binds to methylated genomic DNA to regulate a range of physiological functions implicated in neuronal development and adult synaptic plasticity...
November 2023: Neurobiology of Disease
https://read.qxmd.com/read/37924049/gut-brain-axis-effect-of-basil-oil-on-the-gut-microbiota-and-its-contribution-to-the-anticonvulsant-properties
#39
JOURNAL ARTICLE
Sumaiya Bandile Amidu, Vivian Etsiapa Boamah, Edmund Ekuadzi, Priscilla Kolibea Mante
BACKGROUND: Epilepsy is a chronic neurological condition that disrupts the normal functioning of the brain and it is characterized by seizures. Research suggests the involvement of the Gut-Brain axis in epilepsy. This study seeks to determine the role of the gut microbiota in the anticonvulsant effect of basil oil (BO) using antibiotic-depleted and altered germ-free mice against naïve mice in Pentylenetetrazole (PTZ) induced seizure model. There is an ever growing interest in improvement of treatment outcomes in epilepsy and also in the development of newer therapeutic options, especially in the population of patients that do not attain seizure relief from available antiseizure medications (ASMs)...
November 3, 2023: BMC complementary medicine and therapies
https://read.qxmd.com/read/37877434/a-novel-de-novo-frameshift-variant-in-the-chd2-gene-related-to-intellectual-and-developmental-disability-seizures-and-speech-problems
#40
JOURNAL ARTICLE
Atefeh Mir, Yongjun Song, Hane Lee, Zakiye Nadeali, Mohammad Amin Tabatabaiefar
BACKGROUND: The chromodomain helicase DNA-binding protein 2 (CHD2) is a member of the ATP-dependent chromatin remodelling family of proteins, which are critical for the assembly and regulation of chromatin. De novo variants and deletions in the CHD2 gene have been associated with childhood-onset developmental and epileptic encephalopathies type 94 (DEE 94). This study reports a novel deleterious de novo heterozygous frameshift insertion variant in the CHD2 gene. METHODS: The causative variant was diagnosed using whole-exome sequencing...
October 25, 2023: Molecular Genetics & Genomic Medicine
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