keyword
https://read.qxmd.com/read/37779671/interneuron-odyssey-molecular-mechanisms-of-tangential-migration
#1
REVIEW
Ikram Toudji, Asmaa Toumi, Émile Chamberland, Elsa Rossignol
Cortical GABAergic interneurons are critical components of neural networks. They provide local and long-range inhibition and help coordinate network activities involved in various brain functions, including signal processing, learning, memory and adaptative responses. Disruption of cortical GABAergic interneuron migration thus induces profound deficits in neural network organization and function, and results in a variety of neurodevelopmental and neuropsychiatric disorders including epilepsy, intellectual disability, autism spectrum disorders and schizophrenia...
2023: Frontiers in Neural Circuits
https://read.qxmd.com/read/37697770/potassium-channel-subfamily-t-member-1-kcnt1-pathological-variant-causing-epilepsy-of-infancy-with-migrating-focal-seizures-a-case-report
#2
Prem Chand, Meher Angez, Ayesha Nasir Hameed, Salman Kirmani
Pathological mutation of potassium channel subfamily T member 1 (KCNT1) gene causes an autosomal dominant disorder characterised by secondarily generalised seizures/migratory focal seizure, cyanosis, and dysmorphic features. We report the case of a five-month old male with pathological KCNT1 variant who presented with focal clonic seizures, Mongol spots, and grade two systolic murmur at the left lower sternal border and loud P2. The seizures were refractory to most anti-epileptic drugs but showed some response to Valproic acid...
August 2023: JPMA. the Journal of the Pakistan Medical Association
https://read.qxmd.com/read/37680968/4e-bp1-expression-in-embryonic-postmitotic-neurons-mitigates-mtorc1-induced-cortical-malformations-and-behavioral-seizure-severity-but-does-not-prevent-epilepsy-in-mice
#3
JOURNAL ARTICLE
Lena H Nguyen, Manas Sharma, Angelique Bordey
Hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1) pathway during neurodevelopment leads to focal cortical malformations associated with intractable seizures. Recent evidence suggests that dysregulated cap-dependent translation downstream of mTORC1 contributes to cytoarchitectural abnormalities and seizure activity. Here, we examined whether reducing cap-dependent translation by expressing a constitutively active form of the translational repressor, 4E-BP1, downstream of mTORC1 would prevent the development of cortical malformations and seizures...
2023: Frontiers in Neuroscience
https://read.qxmd.com/read/37460877/cxcr5-regulates-neuronal-polarity-development-and-migration-in-the-embryonic-stage-via-f-actin-homeostasis-and-results-in-epilepsy-related-behavior
#4
JOURNAL ARTICLE
Zhijuan Zhang, Hui Zhang, Ana Antonic-Baker, Patrick Kwan, Yin Yan, Yuanlin Ma
Epilepsy is a common, chronic neurological disorder that has been associated with impaired neurodevelopment and immunity. The chemokine receptor CXCR5 is involved in seizures via an unknown mechanism. Here, we first determined the expression pattern and distribution of the CXCR5 gene in the mouse brain during different stages of development and the brain tissue of patients with epilepsy. Subsequently, we found that the knockdown of CXCR5 increased the susceptibility of mice to pentylenetetrazol- and kainic acid-induced seizures, whereas CXCR5 overexpression had the opposite effect...
July 17, 2023: Neuroscience Bulletin
https://read.qxmd.com/read/37047560/migratory-response-of-cells-in-neurogenic-niches-to-neuronal-death-the-onset-of-harmonic-repair
#5
REVIEW
Noelia Geribaldi-Doldán, Livia Carrascal, Patricia Pérez-García, José M Oliva-Montero, Ricardo Pardillo-Díaz, Samuel Domínguez-García, Carlos Bernal-Utrera, Ricardo Gómez-Oliva, Sergio Martínez-Ortega, Cristina Verástegui, Pedro Nunez-Abades, Carmen Castro
Harmonic mechanisms orchestrate neurogenesis in the healthy brain within specific neurogenic niches, which generate neurons from neural stem cells as a homeostatic mechanism. These newly generated neurons integrate into existing neuronal circuits to participate in different brain tasks. Despite the mechanisms that protect the mammalian brain, this organ is susceptible to many different types of damage that result in the loss of neuronal tissue and therefore in alterations in the functionality of the affected regions...
April 1, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/36626901/human-cortical-interneurons-optimized-for-grafting-specifically-integrate-abort-seizures-and-display-prolonged-efficacy-without-over-inhibition
#6
JOURNAL ARTICLE
Qian Zhu, Akanksha Mishra, Joy S Park, Dongxin Liu, Derek T Le, Sasha Z Gonzalez, Morgan Anderson-Crannage, James M Park, Gun-Hoo Park, Laura Tarbay, Kamron Daneshvar, Matthew Brandenburg, Christina Signoretti, Amy Zinski, Edward-James Gardner, Kelvin L Zheng, Chiderah P Abani, Carla Hu, Cameron P Beaudreault, Xiao-Lei Zhang, Patric K Stanton, Jun-Hyeong Cho, Libor Velíšek, Jana Velíšková, Saqlain Javed, Christopher S Leonard, Hae-Young Kim, Sangmi Chung
Previously, we demonstrated the efficacy of human pluripotent stem cell (hPSC)-derived GABAergic cortical interneuron (cIN) grafts in ameliorating seizures. However, a safe and reliable clinical translation requires a mechanistic understanding of graft function, as well as the assurance of long-term efficacy and safety. By employing hPSC-derived chemically matured migratory cINs in two models of epilepsy, we demonstrate lasting efficacy in treating seizures and comorbid deficits, as well as safety without uncontrolled growth...
March 15, 2023: Neuron
https://read.qxmd.com/read/36353360/zeb2-haploinsufficient-mowat-wilson-syndrome-induced-pluripotent-stem-cells-show-disrupted-gabaergic-transcriptional-regulation-and-function
#7
JOURNAL ARTICLE
Jens Schuster, Joakim Klar, Ayda Khalfallah, Loora Laan, Jan Hoeber, Ambrin Fatima, Velin Marita Sequeira, Zhe Jin, Sergiy V Korol, Mikael Huss, Ann Nordgren, Britt Marie Anderlid, Caroline Gallant, Bryndis Birnir, Niklas Dahl
Mowat-Wilson syndrome (MWS) is a severe neurodevelopmental disorder caused by heterozygous variants in the gene encoding transcription factor ZEB2 . Affected individuals present with structural brain abnormalities, speech delay and epilepsy. In mice, conditional loss of Zeb2 causes hippocampal degeneration, altered migration and differentiation of GABAergic interneurons, a heterogeneous population of mainly inhibitory neurons of importance for maintaining normal excitability. To get insights into GABAergic development and function in MWS we investigated ZEB2 haploinsufficient induced pluripotent stem cells (iPSC) of MWS subjects together with iPSC of healthy donors...
2022: Frontiers in Molecular Neuroscience
https://read.qxmd.com/read/36207442/integrin-kcnb1-potassium-channel-complexes-regulate-neocortical-neuronal-development-and-are-implicated-in-epilepsy
#8
JOURNAL ARTICLE
Alessandro Bortolami, Wei Yu, Elena Forzisi, Koray Ercan, Ritik Kadakia, Madhuvika Murugan, Denise Fedele, Irving Estevez, Detlev Boison, Mladen-Roko Rasin, Federico Sesti
Potassium (K+ ) channels are robustly expressed during prenatal brain development, including in progenitor cells and migrating neurons, but their function is poorly understood. Here, we investigate the role of voltage-gated K+ channel KCNB1 (Kv2.1) in neocortical development. Neuronal migration of glutamatergic neurons was impaired in the neocortices of KCNB1 null mice. Migratory defects persisted into the adult brains, along with disrupted morphology and synaptic connectivity. Mice developed seizure phenotype, anxiety, and compulsive behavior...
October 7, 2022: Cell Death and Differentiation
https://read.qxmd.com/read/36054851/-epileptic-encephalopathies-of-onset-in-neonates-and-infants
#9
REVIEW
Graciela Del Pilar Guerrero Ruiz
The International League Against Epilepsy (ILAE) recently socialized the proposed classification for epileptic syndromes of neonatal onset and up to the first 2 years of age, dividing them into self-limited epileptic syndromes and epileptic and developmental encephalopathies (DEEs). In this review we will focus on DEEs, defined as disorders in which there is developmental impairment related to both the underlying aetiology independent of epileptiform activity and epileptic encephalopathy. These include early infantile epileptic encephalopathy or Ohtahara syndrome and early myoclonic encephalopathy in the neonatal period, now grouped under the name of epileptic and early childhood developmental encephalopathies (EIDEE)...
August 30, 2022: Medicina
https://read.qxmd.com/read/32564887/shedding-light-on-chandelier-cell-development-connectivity-and-contribution-to-neural-disorders
#10
REVIEW
Nicholas B Gallo, Anirban Paul, Linda Van Aelst
Chandelier cells (ChCs) are a unique type of GABAergic interneuron that selectively innervate the axon initial segment (AIS) of excitatory pyramidal neurons; the subcellular domain where action potentials are initiated. The proper genesis and maturation of ChCs is critical for regulating neural ensemble firing in the neocortex throughout development and adulthood. Recently, genetic and molecular studies have shed new light on the complex innerworkings of ChCs in health and disease. This review presents an overview of recent studies on the developmental origins, migratory properties, and morphology of ChCs...
August 2020: Trends in Neurosciences
https://read.qxmd.com/read/32524043/genetic-generalized-epilepsies-with-frontal-lesions-mimicking-migratory-disorders-on-the-epilepsy-monitoring-unit
#11
JOURNAL ARTICLE
Susanne Fauser, Thomas Cloppenborg, Tilman Polster, Ulrich Specht, Friedrich G Woermann, Christian G Bien
OBJECTIVE: Some patients with genetic generalized epilepsy (GGE) may present with ambiguous and atypical findings and even focal brain abnormalities. Correct diagnosis may therefore be difficult. METHODS: We retrospectively collected six patients investigated on the epilepsy monitoring unit with MRI abnormalities mimicking focal cortical dysplasia (FCD-like) or heterotopias, but with semiology and EEG features of GGE. We compared them to four additional patients with GGE and nonmigratory abnormalities...
June 2020: Epilepsia Open
https://read.qxmd.com/read/32256318/granule-cell-dispersion-in-human-temporal-lobe-epilepsy-proteomics-investigation-of-neurodevelopmental-migratory-pathways
#12
JOURNAL ARTICLE
Joan Y W Liu, Natasha Dzurova, Batoul Al-Kaaby, Kevin Mills, Sanjay M Sisodiya, Maria Thom
Granule cell dispersion (GCD) is a common pathological feature observed in the hippocampus of patients with Mesial Temporal Lobe Epilepsy (MTLE). Pathomechanisms underlying GCD remain to be elucidated, but one hypothesis proposes aberrant reactivation of neurodevelopmental migratory pathways, possibly triggered by febrile seizures. This study aims to compare the proteomes of basal and dispersed granule cells in the hippocampus of eight MTLE patients with GCD to identify proteins that may mediate GCD in MTLE...
2020: Frontiers in Cellular Neuroscience
https://read.qxmd.com/read/31915148/jnk-signaling-is-required-for-proper-tangential-migration-and-laminar-allocation-of-cortical-interneurons
#13
JOURNAL ARTICLE
Abigail K Myers, Jessica G Cunningham, Skye E Smith, John P Snow, Catherine A Smoot, Eric S Tucker
The precise migration of cortical interneurons is essential for the formation and function of cortical circuits, and disruptions to this key developmental process are implicated in the etiology of complex neurodevelopmental disorders, including schizophrenia, autism and epilepsy. We have recently identified the Jun N-terminal kinase (JNK) pathway as an important mediator of cortical interneuron migration in mice, regulating the proper timing of interneuron arrival into the cortical rudiment. In the current study, we demonstrate a vital role for JNK signaling at later stages of corticogenesis, when interneurons transition from tangential to radial modes of migration...
January 17, 2020: Development
https://read.qxmd.com/read/31563951/human-ccr5high-effector-memory-cells-perform-cns-parenchymal-immune-surveillance-via-gzmk-mediated-transendothelial-diapedesis
#14
JOURNAL ARTICLE
Sebastian Herich, Tilman Schneider-Hohendorf, Astrid Rohlmann, Maryam Khaleghi Ghadiri, Andreas Schulte-Mecklenbeck, Lisa Zondler, Claudia Janoschka, Patrick Ostkamp, Jannis Richter, Johanna Breuer, Stoyan Dimitrov, Hans-Georg Rammensee, Oliver M Grauer, Luisa Klotz, Catharina C Gross, Walter Stummer, Markus Missler, Alexander Zarbock, Dietmar Vestweber, Heinz Wiendl, Nicholas Schwab
Although the CNS is immune privileged, continuous search for pathogens and tumours by immune cells within the CNS is indispensable. Thus, distinct immune-cell populations also cross the blood-brain barrier independently of inflammation/under homeostatic conditions. It was previously shown that effector memory T cells populate healthy CNS parenchyma in humans and, independently, that CCR5-expressing lymphocytes as well as CCR5 ligands are enriched in the CNS of patients with multiple sclerosis. Apart from the recently described CD8+ CNS tissue-resident memory T cells, we identified a population of CD4+CCR5high effector memory cells as brain parenchyma-surveilling cells...
November 1, 2019: Brain
https://read.qxmd.com/read/31417368/beyond-the-exome-the-non-coding-genome-and-enhancers-in-neurodevelopmental-disorders-and-malformations-of-cortical-development
#15
JOURNAL ARTICLE
Elena Perenthaler, Soheil Yousefi, Eva Niggl, Tahsin Stefan Barakat
The development of the human cerebral cortex is a complex and dynamic process, in which neural stem cell proliferation, neuronal migration, and post-migratory neuronal organization need to occur in a well-organized fashion. Alterations at any of these crucial stages can result in malformations of cortical development (MCDs), a group of genetically heterogeneous neurodevelopmental disorders that present with developmental delay, intellectual disability and epilepsy. Recent progress in genetic technologies, such as next generation sequencing, most often focusing on all protein-coding exons (e...
2019: Frontiers in Cellular Neuroscience
https://read.qxmd.com/read/30232798/-epidemiology-of-epilepsy-in-spain-and-latin-america
#16
REVIEW
G Garcia-Martin, P J Serrano-Castro
INTRODUCTION: The connection between Spain and Latin America on the cultural, ethnic and commercial levels has been very important over the last five centuries, and this accounts for the existence of a common identity that can condition the epidemiology of chronic diseases with genetic and environmental determinants, such as epilepsy. In the last 15 years significant changes have come about in the economic development and the healthcare conditions in these countries as well as the migratory flows among them that may have brought about changes in the previous epidemiological situation...
October 1, 2018: Revista de Neurologia
https://read.qxmd.com/read/29687029/de-novo-kcnq2-mutation-in-one-case-of-epilepsy-of-infancy-with-migrating-focal-seizures-that-evolved-to-infantile-spasms
#17
Haolin Duan, Jing Peng, Miriam Kessi, Fei Yin
Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare type of early-onset epileptic encephalopathy that is characterized by refractory migratory multifocal seizures that migrate between hemispheres. Its etiology is not well known although it is postulated to occur due to channelopathy. The authors report the first case of EIMFS due to a de novo heterozygous mutation in exon 4(c.881C>T missense mutation, p.Ala294Val, NM_172107.2) in KCNQ2 gene which later evolved into infantile spasms. However, it is the second case of EIMFS with KCNQ2 mutation...
2018: Child Neurology Open
https://read.qxmd.com/read/29060155/impact-of-injection-time-on-migration-of-spect-seizure-onset-in-temporal-lobe-epilepsy
#18
JOURNAL ARTICLE
Saranya Ramchuankiat, Pisit Jarumaneeroj, Chusak Limotai, Supatporn Tepmongkol, Yothin Rakvongthai
In this work, we investigated an impact of injection time on migration of seizure-onset in ictal/interictal single photon emission computed tomography (SPECT) study for patients with temporal lobe epilepsy. We selected 33 patients with refractory temporal lobe epilepsy who underwent ictal/interictal SPECT studies and had preoperative intracranial EEG result or surgical resection which was used as reference for seizure location. We divided all patients into two groups, which are the fast and the delayed groups; the delayed group comprised patients with injection time more than a cutoff time and vice versa...
July 2017: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://read.qxmd.com/read/28925561/nestin-expressing-cell-types-in-the-temporal-lobe-and-hippocampus-morphology-differentiation-and-proliferative-capacity
#19
JOURNAL ARTICLE
Joan Liu, Cheryl Reeves, Thomas Jacques, Andrew McEvoy, Anna Miserocchi, Pamela Thompson, Sanjay Sisodiya, Maria Thom
Nestin is expressed in immature neuroepithelial and progenitor cell types and transiently upregulated in proliferative neuroglial cells responding to acute brain injury, including following seizures. In 36 temporal lobe (TLobe) specimens from patients with TLobe epilepsy (age range 8-60 years) we studied the number, distribution and morphology of nestin-expressing cells (NEC) in the pes, hippocampus body, parahippocampal gyrus, amygdala, temporal cortex and pole compared with post mortem control tissues from 26 cases (age range 12 gestational weeks to 76 years)...
January 2018: Glia
https://read.qxmd.com/read/28587680/in-vitro-antineoplastic-effects-of-brivaracetam-and-lacosamide-on-human-glioma-cells
#20
JOURNAL ARTICLE
Ambra Rizzo, Sara Donzelli, Vita Girgenti, Andrea Sacconi, Chiara Vasco, Andrea Salmaggi, Giovanni Blandino, Marta Maschio, Emilio Ciusani
BACKGROUND: Epilepsy is a frequent symptom in patients with glioma. Although treatment with antiepileptic drugs is generally effective in controlling seizures, drug-resistant patients are not uncommon. Multidrug resistance proteins (MRPs) and P-gp are over-represented in brain tissue of patients with drug-resistant epilepsy, suggesting their involvement in the clearance of antiepileptic medications. In addition to their anticonvulsant action, some drugs have been documented for cytotoxic effects...
June 6, 2017: Journal of Experimental & Clinical Cancer Research: CR
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