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https://www.readbyqxmd.com/read/29217690/re-positioning-of-somatic-golgi-apparatus-is-essential-for-the-dendritic-establishment-of-adult-born-hippocampal-neurons
#1
Sneha Rao, Gregory W Kirschen, Joanna Szczurkowska, Adrian Di Antonio, Jia Wang, Shaoyu Ge, Maya Shelly
New dentate granule cells are continuously generated, and integrate into the pre-existing hippocampal network in the adult brain. How an adult-born neuron with initially simple spindle-like morphology develops into a complex dentate granule cell (DGC), consisting of a single apical dendrite with further branches, remains largely unknown. Here, using retroviruses to birth-date and manipulate newborn neurons, we examined initial dendritic formation, and possible underlying mechanisms. We found that GFP-expressing newborn cells began to establish a DGC-like morphology at around 7 days after birth, with a primary dendrite pointing to the molecular layer, but at this stage, with several neurites in the neurogenic zone...
December 6, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29217678/hrpu-2-a-homologue-of-mammalian-hnrnp-u-regulates-synaptic-transmission-by-controlling-the-expression-of-slo-2-potassium-channel-in-c-elegans
#2
Ping Liu, Sijie Jason Wang, Zhao-Wen Wang, Bojun Chen
Slo2 channels are large-conductance potassium channels abundantly expressed in the nervous system. However, it is unclear how their expression level in neurons is regulated. Here we report that HRPU-2, an RNA-binding protein homologous to mammalian hnRNP U, plays an important role in regulating the expression of SLO-2 (a homologue of mammalian Slo2) in C. elegans Loss-of-function (lf) mutants of hrpu-2 were isolated in a genetic screen for suppressors of a sluggish phenotype caused by a hyperactive SLO-2. In hrpu-2(lf) mutants, SLO-2-mediated delayed outward currents in neurons are greatly decreased, and neuromuscular synaptic transmission is enhanced...
December 7, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29217145/neurodevelopmental-synaptopathies-insights-from-behaviour-in-rodent-models-of-synapse-gene-mutations
#3
REVIEW
J Luo, R H Norris, S L Gordon, J Nithianantharajah
The genomic revolution has begun to unveil the enormous complexity and heterogeneity of the genetic basis of neurodevelopmental disorders such as such epilepsy, intellectual disability, autism spectrum disorder and schizophrenia. Increasingly, human mutations in synapse genes are being identified across these disorders. These neurodevelopmental synaptopathies highlight synaptic homeostasis pathways as a convergence point underlying disease mechanisms. Here, we review some of the key pre- and postsynaptic genes in which penetrant human mutations have been identified in neurodevelopmental disorders for which genetic rodent models have been generated...
December 4, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/29215089/genetic-analysis-of-benign-familial-epilepsies-in-the-first-year-of-life-in-a-chinese-cohort
#4
Qi Zeng, Xiaoling Yang, Jing Zhang, Aijie Liu, Zhixian Yang, Xiaoyan Liu, Ye Wu, Xiru Wu, Liping Wei, Yuehua Zhang
Benign familial epilepsies that present themselves in the first year of life include benign familial neonatal epilepsy (BFNE), benign familial neonatal-infantile epilepsy (BFNIE) and benign familial infantile epilepsy (BFIE). We used Sanger sequencing and targeted next-generation sequencing to detect gene mutations in a Chinese cohort of patients with these three disorders. A total of 79 families were collected, including 4 BFNE, 7 BFNIE, and 68 BFIE. Genetic testing led to the identification of gene mutations in 60 families (60 out of 79, 75...
November 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29214672/region-specific-deletions-of-the-glutamate-transporter-glt1-differentially-affect-seizure-activity-and-neurodegeneration-in-mice
#5
Junya Sugimoto, Moeko Tanaka, Kaori Sugiyama, Yukiko Ito, Hidenori Aizawa, Miho Soma, Tomoko Shimizu, Akira Mitani, Kohichi Tanaka
Glial glutamate transporter GLT1 plays a key role in the maintenance of extracellular glutamate homeostasis. Recent human genetic studies have suggested that de novo mutations in GLT1 (EAAT2) cause early-onset epilepsy with multiple seizure types. Consistent with these findings, global GLT1 null mice show lethal spontaneous seizures. The consequences of GLT1 dysfunction vary between different brain regions, suggesting that the role of GLT1 dysfunction in epilepsy may also vary with brain regions. In this study, we generated region-specific GLT1 knockout mice by crossing floxed-GLT1 mice with mice that express the Cre recombinase in a particular domain of the ventricular zone...
December 6, 2017: Glia
https://www.readbyqxmd.com/read/29214587/rare-neurodegenerative-diseases-clinical-and-genetic-update
#6
Antoni Matilla-Dueñas, Marc Corral-Juan, Agustí Rodríguez-Palmero Seuma, Dolores Vilas, Lourdes Ispierto, Sara Morais, Jorge Sequeiros, Isabel Alonso, Víctor Volpini, Carmen Serrano-Munuera, Guillem Pintos-Morell, Ramiro Álvarez, Ivelisse Sánchez
More than 600 human disorders afflict the nervous system. Of these, neurodegenerative diseases are usually characterised by onset in late adulthood, progressive clinical course, and neuronal loss with regional specificity in the central nervous system. They include Alzheimer's disease and other less frequent dementias, brain cancer, degenerative nerve diseases, encephalitis, epilepsy, genetic brain disorders, head and brain malformations, hydrocephalus, stroke, Parkinson's disease, multiple sclerosis, amyotrophic lateral sclerosis (ALS or Lou Gehrig's Disease), Huntington's disease, and Prion diseases, among others...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29214565/intellectual-disability-rare-disorders-a-diagnostic-challenge
#7
Malin Kvarnung, Ann Nordgren
Rare disorders constitute a large and heterogeneous group of diagnoses of which many cause chronic disabilities with significant impact on the lives of affected individuals and their families as well as on the health-care system. Each individual disorder is rare, but when considered as a group, rare disorders are common with a total prevalence of approximately 6-8%. The clinical presentation of these disorders includes a broad diversity of symptoms and signs, often involving the nervous system and resulting in symptoms such as intellectual disability, neuropsychiatric disorders, epilepsy and motor dysfunction...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29213042/-new-opportunities-in-the-optimization-of-epilepsy-treatment-in-adolescents
#8
V I Guzeva, I V Okhrim, O V Guzeva, V V Guzeva, N E Maksimova
In the pubertal period, the most severe forms of childhood epilepsy persist and are modified; genetically determined syndromes, atypical for early and late age periods, make their debut. Hereditary predisposition, instability of homeostatic mechanisms, neuroendocrine restructuring at the age of puberty and the influence of factors contributing to the realization of a genetic defect lead to a long-term transformation of mediator systems and formation of epileptic activity in adolescents. The authors present common approaches in the treatment and characterization of the modern antiepileptic drug perampanel, which is highly effective in treatment of patients with resistant forms of epilepsy...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29207692/oxidative-stress-in-the-development-of-genetic-generalised-epilepsy-an-observational-study-in-southern-indian-population
#9
D K V Prasad, U Satyanarayana, Uzma Shaheen, T Surya Prabha, Anjana Munshi
Introduction: Oxidative stress resulting from excessive generation of Reactive Oxygen Species (ROS) plays a significant role in neurodegeneration associated with seizures/epilepsy. Aim: To evaluate oxidative stress markers and antioxidant enzymes in Genetic Generalised Epilepsy (GGE) and to know the extent of oxidative stress induced by Anti-Epileptic Drugs (AEDs) with the time duration of treatment. Materials and Methods: In this case-control study, 310 GGE patients (male:female=203:107), who were on AED treatment (n=235) and 75 untreated patients (male:female=49:26) along with 310 age and sex matched healthy controls were recruited...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29198163/association-between-abcb1-polymorphisms-and-response-to-first-generation-antiepileptic-drugs-in-a-tunisian-epileptic-population
#10
Marwa Ajmi, Sana Boujaafar, Nadia Zouari, Dorra Amor, Asma Nasr, Nabila Ben Rejeb, Sana Ben Amor, Asma Omezzine, Sofien Benammou, Ali Bouslama
We aimed in this study to investigate the association between the ATP-Binding Cassette sub-family B, member1 (ABCB1) polymorphisms: C1236T (rs1128503), G2677T (rs2032582) and C3435T (rs1045642), and the resistance to anti-epileptic drugs (AEDs). The PCR-RFLP genotyping of ABCB1 polymorphisms was conducted on 153 Tunisian epileptic patients treated with AEDs. Two genetic polymorphisms of the ABCB1 gene seemed to influence the response to AEDs. In fact, the G2677T T and the C3435T T alleles appeared to increase the risk of developing AEDs resistance (ORs* = 3...
December 4, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29197620/role-of-the-fyn-pkc%C3%AE-signaling-in-se-induced-neuroinflammation-and-epileptogenesis-in-experimental-models-of-temporal-lobe-epilepsy
#11
Shaunik Sharma, Steven Carlson, Sreekanth Puttachary, Souvarish Sarkar, Lucas Showman, Marson Putra, Anumantha G Kanthasamy, Thimmasettappa Thippeswamy
Status epilepticus (SE) induces neuroinflammation and epileptogenesis, but the mechanisms are not yet fully delineated. The Fyn, a non-receptor Src family of tyrosine kinase (SFK), and its immediate downstream target, PKCδ are emerging as potential mediators of neuroinflammation. In order to first determine the role of Fyn kinase signaling in SE, we tested the efficacy of a SFK inhibitor, saracatinib (25mg/kg, oral) in C57BL/6J mouse kainate model of acute seizures. Saracatinib pretreatment dampened SE severity and completely prevented mortality...
November 29, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/29196579/clinical-and-molecular-characterization-of-kcnt1-related-severe-early-onset-epilepsy
#12
Amy McTague, Umesh Nair, Sony Malhotra, Esther Meyer, Natalie Trump, Elena V Gazina, Apostolos Papandreou, Adeline Ngoh, Sally Ackermann, Gautam Ambegaonkar, Richard Appleton, Archana Desurkar, Christin Eltze, Rachel Kneen, Ajith V Kumar, Karine Lascelles, Tara Montgomery, Venkateswaran Ramesh, Rajib Samanta, Richard H Scott, Jeen Tan, William Whitehouse, Annapurna Poduri, Ingrid E Scheffer, W K Kling Chong, J Helen Cross, Maya Topf, Steven Petrou, Manju A Kurian
OBJECTIVE: To characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy. METHODS: We identified a cohort of 31 patients with epilepsy of infancy with migrating focal seizures (EIMFS) and screened for variants in KCNT1 using direct Sanger sequencing, a multiple-gene next-generation sequencing panel, and whole-exome sequencing. Additional patients with non-EIMFS early-onset epilepsy in whom we identified KCNT1 variants on local diagnostic multiple gene panel testing were also included...
December 1, 2017: Neurology
https://www.readbyqxmd.com/read/29196575/pitfalls-in-developing-precision-medicine-for-genetic-epilepsy
#13
EDITORIAL
Kimford J Meador, Cheolsu Shin
No abstract text is available yet for this article.
December 1, 2017: Neurology
https://www.readbyqxmd.com/read/29196143/intravenous-immunoglobulin-g-as-adjuvant-treatment-in-drug-resistant-childhood-epilepsy
#14
Z González-Castillo, E Solórzano Gómez, A Torres-Gómez, J A Venta Sobero, J Gutiérrez Moctezuma
BACKGROUND: Epilepsy is the most common neurological disease in childhood; depending on the definition of drug-resistant epilepsy, incidence varies from 10% to 23% in the paediatric population. The objective of this study was to account for the decrease in the frequency and/or monthly duration of epileptic seizures in paediatric patients with drug-resistant epilepsy treated with antiepileptic drugs, before and after adding intravenous immunoglobulin G (iIV IgG). METHODS: This is an analytic, observational, retrospective case-control study...
November 28, 2017: Neurología: Publicación Oficial de la Sociedad Española de Neurología
https://www.readbyqxmd.com/read/29193309/converging-early-responses-to-brain-injury-pave-the-road-to-epileptogenesis
#15
REVIEW
Eric J Neuberger, Akshay Gupta, Deepak Subramanian, Akshata A Korgaonkar, Vijayalakshmi Santhakumar
Epilepsy, characterized by recurrent seizures and abnormal electrical activity in the brain, is one of the most prevalent brain disorders. Over two million people in the United States have been diagnosed with epilepsy and 3% of the general population will be diagnosed with it at some point in their lives. While most developmental epilepsies occur due to genetic predisposition, a class of "acquired" epilepsies results from a variety of brain insults. A leading etiological factor for epilepsy that is currently on the rise is traumatic brain injury (TBI), which accounts for up to 20% of all symptomatic epilepsies...
November 29, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29190809/molecular-diagnosis-of-patients-with-epilepsy-and-developmental-delay-using-a-customized-panel-of-epilepsy-genes
#16
Laura Ortega-Moreno, Beatriz G Giráldez, Victor Soto-Insuga, Rebeca Losada-Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero-López, José M Serratosa
Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epilepsy diagnosis, and targeted resequencing using genetic panels is the a most cost-effective choice. We report the results found in a group of 87 patients with epilepsy and developmental delay using targeted next generation sequencing (custom-designed Haloplex panel)...
2017: PloS One
https://www.readbyqxmd.com/read/29187863/smooth-an-hnrnp-l-homolog-might-decrease-mitochondrial-metabolism-by-post-transcriptional-regulation-of-isocitrate-dehydrogenase-idh-and-other-metabolic-genes-in-the-sub-acute-phase-of-traumatic-brain-injury
#17
Arko Sen, Katherine Gurdziel, Jenney Liu, Wen Qu, Oluwademi O Nuga, Rayanne B Burl, Maik Hüttemann, Roger Pique-Regi, Douglas M Ruden
Traumatic brain injury (TBI) can cause persistent pathological alteration of neurons. This may lead to cognitive dysfunction, depression and increased susceptibility to life threatening diseases, such as epilepsy and Alzheimer's disease. To investigate the underlying genetic and molecular basis of TBI, we subjected w1118Drosophila melanogaster to mild closed head trauma and found that mitochondrial activity is reduced in the brains of these flies 24 h after inflicting trauma. To determine the transcriptomic changes after mild TBI, we collected fly heads 24 h after inflicting trauma, and performed RNA-seq analyses...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29179159/cntnap2-mutations-and-autosomal-dominant-epilepsy-with-auditory-features
#18
Emanuela Leonardi, Emanuela Dazzo, Maria Cristina Aspromonte, Francesco Tabaro, Stefano Pascarelli, Silvio C E Tosatto, Roberto Michelucci, Alessandra Murgia, Carlo Nobile
Autosomal dominant epilepsy with auditory features (ADEAF) is clinically characterized by focal seizures with prominent auditory or aphasic auras and absence of structural brain abnormalities. Mutations in LGI1 and RELN genes account for the disorder in about 50% of ADEAF families. In a recent paper, a heterozygous intragenic deletion in the CNTNAP2 gene has been associated to ADEAF in a single family. We screened 28 ADEAF families for mutations in CNTNAP2 by next generation sequencing and copy number variation analyses and found no likely pathogenic mutations segregating with the disease...
November 21, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29178443/the-past-present-and-future-challenges-in-epilepsy-related-and-sudden-deaths-and-biobanking
#19
Maria Thom, Maura Boldrini, Elizabeth Bundock, Mary N Sheppard, Orrin Devinsky
Awareness and research on epilepsy-related deaths (ERD), in particular Sudden Unexpected Death in Epilepsy (SUDEP), have exponentially increased over the last two decades. Most publications have focused on guidelines that inform clinicians dealing with these deaths, educating patients, potential risk factors and mechanisms. There is a relative paucity of information available for pathologists who conduct these autopsies regarding appropriate post-mortem practice and investigations. As we move from recognizing SUDEP as the most common form of ERD toward in-depth investigations into its causes and prevention, health professionals involved with these autopsies and post-mortem procedure must remain fully informed...
November 27, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29178011/pyridoxine-dependent-epilepsies-an-observational-study-on-clinical-diagnostic-therapeutic-and-prognostic-features-in-a-pediatric-cohort
#20
Raffaele Falsaperla, Maria Stella Vari, Irene Toldo, Alessandra Murgia, Stefano Sartori, Marilena Vecchi, Agnese Suppiej, Alberto Burlina, Mario Mastrangelo, Vincenzo Leuzzi, Valentina Marchiani, Paola De Liso, Giuseppe Capovilla, Pasquale Striano, Giovanna Vitaliti
The aim of our study was to describe the clinical, electroencephalogram, molecular findings and the diagnostic and therapeutic flow-chart of children with pyridoxine-dependent epilepsies (PDEs). We performed a retrospective observational study on children with PDEs, diagnosed and followed-up in Italian Pediatric Departments. In each centre, the authors collected data from a cohort of children admitted for intractable seizures, responsive to pyridoxine administration and resistant to other anticonvulsant therapies...
November 25, 2017: Metabolic Brain Disease
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