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epilepsy migratory

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
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: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
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
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
Ivica Kostović, Goran Sedmak, Mario Vukšić, Miloš Judaš
The human fetal cerebral cortex develops through a series of partially overlapping histogenetic events which occur in transient cellular compartments, such as the subplate zone. The subplate serves as waiting compartment for cortical afferent fibers, the major site of early synaptogenesis and neuronal differentiation and the hub of the transient fetal cortical circuitry. Thus, the subplate has an important but hitherto neglected role in the human fetal cortical connectome. The subplate is also an important compartment for radial and tangential migration of future cortical neurons...
February 2015: CNS Neuroscience & Therapeutics
Harvey B Sarnat, Laura Flores-Sarnat
Cerebral malformations are best understood as abnormal tissue morphogenesis in the context of disorders of ontogenesis. In neuroembryology, the timing of onset and duration of abnormal genetic expression and neurodevelopmental processes are primordial and must always be assessed, regardless whether the dysgenesis is primarily genetic in origin or acquired in utero due to ischemia, fetal infarcts that interrupt cellular migration or exposure to teratogenic drugs or neurotoxins. Defective timing interferes with the synchrony between different developmental processes, such as synaptogenesis in relation to other aspects of neuronal maturation...
2014: Progress in Brain Research
Tae-Gon Kim, Ruiqin Yao, Travis Monnell, Jun-Hyeong Cho, Anju Vasudevan, Alice Koh, Kumar T Peeyush, Minho Moon, Debkanya Datta, Vadim Y Bolshakov, Kwang-Soo Kim, Sangmi Chung
GABAergic interneurons regulate cortical neural networks by providing inhibitory inputs, and their malfunction, resulting in failure to intricately regulate neural circuit balance, is implicated in brain diseases such as Schizophrenia, Autism, and Epilepsy. During early development, GABAergic interneuron progenitors arise from the ventral telencephalic area such as medial ganglionic eminence (MGE) and caudal ganglionic eminence (CGE) by the actions of secreted signaling molecules from nearby organizers, and migrate to their target sites where they form local synaptic connections...
July 2014: Stem Cells
Nadir Bharucha, Peter Odermatt, Pierre-Marie Preux
BACKGROUND: The majority of people with epilepsy (PWE) live in low- and middle-income countries (LMICs). However, they remain largely untreated and the bulk of resources are used to treat patients in the developed world. This disparity constitutes a challenge for neuroepidemiological studies on a global scale. In the past, several studies have focused on diverse populations in disparate countries at various periods of time and for particular purposes. The specificity of different contexts and circumstances makes it difficult to analyse PWE as a group either qualitatively or quantitatively...
2014: Neuroepidemiology
Khadeejah T Sultan, Keith N Brown, Song-Hai Shi
Inhibitory GABA (γ-aminobutyric acid)-ergic interneurons are a vital component of the neocortex responsible for shaping its output through a variety of inhibitions. Consisting of many flavors, interneuron subtypes are predominantly defined by their morphological, physiological, and neurochemical properties that help to determine their functional role within the neocortex. During development, these cells are born in the subpallium where they then tangentially migrate over long distances before being radially positioned to their final location in the cortical laminae...
2013: Frontiers in Cellular Neuroscience
Volney L Sheen
During cortical development, proliferating neural progenitors exhibit polarized apical and basolateral membranes that are maintained by tightly controlled and membrane-specific vesicular trafficking pathways. Disruption of polarity through impaired delivery of proteins can alter cell fate decisions and consequent expansion of the progenitor pool, as well as impact the integrity of the neuroependymal lining. Loss of neuroependymal integrity disrupts radial glial scaffolding and alters initial neuronal migration from the ventricular zone...
2012: Scientifica
Ramona Frida Moroni, Francesca Inverardi, Maria Cristina Regondi, Paolo Pennacchio, Roberto Spreafico, Carolina Frassoni
Derangements of cortical development can cause a wide spectrum of malformations, generally termed 'cortical dysplasia' (CD), which are frequently associated with drug-resistant epilepsy and other neurological and mental disorders. 1,3-Bis-chloroethyl-nitrosurea (BCNU)-treated rats represent a model of CD due to the presence of histological alterations similar to those observed in human CD. BCNU is an alkylating agent that, administered at embryonic day 15 (E15), causes the loss of many cells destined to cortical layers; this results in cortical thinning but also in histological alterations imputable to migration defects, such as laminar disorganization and cortical and periventricular heterotopia...
2013: Developmental Neuroscience
Timothy J Petros, Carine W Maurer, Stewart A Anderson
Forebrain GABAergic interneurons are divided into subgroups based on their neurochemical markers, connectivity and physiological properties. Abnormal interneuron function is implicated in the pathobiology of neurological disorders such as schizophrenia, autism, and epilepsy. Studies on interneuron development and their role in disease would benefit from an efficient mechanism for the production and selection of specific interneuron subgroups. In this study, we engineered a mouse embryonic stem cell (mESC) line for doxycycline-inducible expression of Nkx2...
July 2013: Stem Cell Research
Asif M Maroof, Sotirios Keros, Jennifer A Tyson, Shui-Wang Ying, Yosif M Ganat, Florian T Merkle, Becky Liu, Adam Goulburn, Edouard G Stanley, Andrew G Elefanty, Hans Ruedi Widmer, Kevin Eggan, Peter A Goldstein, Stewart A Anderson, Lorenz Studer
Human pluripotent stem cells are a powerful tool for modeling brain development and disease. The human cortex is composed of two major neuronal populations: projection neurons and local interneurons. Cortical interneurons comprise a diverse class of cell types expressing the neurotransmitter GABA. Dysfunction of cortical interneurons has been implicated in neuropsychiatric diseases, including schizophrenia, autism, and epilepsy. Here, we demonstrate the highly efficient derivation of human cortical interneurons in an NKX2...
May 2, 2013: Cell Stem Cell
Stacey Beth Foti, Athena Chou, Andrew D Moll, A Jane Roskams
The mammalian central nervous system (CNS) undergoes significant expansion postnatally, producing astrocytes, oligodendrocytes and inhibitory neurons to modulate the activity of neural circuits. This is coincident in humans with the emergence of pediatric epilepsy, a condition commonly treated with valproate/valproic acid (VPA), a potent inhibitor of histone deacetylases (HDACs). The sequential activity of specific HDACs, however, may be essential for the differentiation of distinct subpopulations of neurons and glia...
October 2013: International Journal of Developmental Neuroscience
Willem Kamphuis, Carlyn Mamber, Martina Moeton, Lieneke Kooijman, Jacqueline A Sluijs, Anne H P Jansen, Monique Verveer, Lody R de Groot, Vanessa D Smith, Sindhoo Rangarajan, José J Rodríguez, Marie Orre, Elly M Hol
Glial fibrillary acidic protein (GFAP) is the main astrocytic intermediate filament (IF). GFAP splice isoforms show differential expression patterns in the human brain. GFAPδ is preferentially expressed by neurogenic astrocytes in the subventricular zone (SVZ), whereas GFAP(+1) is found in a subset of astrocytes throughout the brain. In addition, the expression of these isoforms in human brain material of epilepsy, Alzheimer and glioma patients has been reported. Here, for the first time, we present a comprehensive study of GFAP isoform expression in both wild-type and Alzheimer Disease (AD) mouse models...
2012: PloS One
Ana-Maria Buga, Raluca Vintilescu, Adrian Tudor Balseanu, Oltin Tiberiu Pop, Costin Streba, Emil Toescu, Aurel Popa-Wagner
BACKGROUND: Neurogenesis persists throughout life in the adult mammalian brain. Because neurogenesis can only be assessed in postmortem tissue, its functional significance remains undetermined, and identifying an in vivo correlate of neurogenesis has become an important goal. By studying pentylenetetrazole-induced brain stimulation in a rat model of kindling we accidentally discovered that 25±1 days periodic stimulation of Sprague-Dawley rats led to a highly efficient increase in seizure susceptibility...
2012: PloS One
Joan Y W Liu, Dalia Kasperavičiūtė, Lillian Martinian, Maria Thom, Sanjay M Sisodiya
16p13.11 genomic copy number variants are implicated in several neuropsychiatric disorders, such as schizophrenia, autism, mental retardation, ADHD and epilepsy. The mechanisms leading to the diverse clinical manifestations of deletions and duplications at this locus are unknown. Most studies favour NDE1 as the leading disease-causing candidate gene at 16p13.11. In epilepsy at least, the deletion does not appear to unmask recessive-acting mutations in NDE1, with haploinsufficiency and genetic modifiers being prime candidate disease mechanisms...
2012: PloS One
Matthew F Hunter, Heidi Peters, Renato Salemi, David Thorburn, Mark T Mackay
Alpers syndrome is a rare autosomal recessive hepatocerebral degenerative disorder. Seventeen patients with Alpers syndrome or polymerase-γ gene mutations were identified. Case records of 12 patients with Alpers syndrome and polymerase-γ mutations in both alleles were reviewed. All patients manifested developmental delay or regression, refractory epilepsy, and biochemical liver dysfunction. Liver failure occurred in three patients previously treated with valproate. Other signs included ataxia, visual disturbance, motor paresis, and tremor...
November 2011: Pediatric Neurology
Jeane Silva, Guanghu Wang, John K Cowell
BACKGROUND: Mutations in the LGI1 gene predispose to a rare, hereditary form of temporal epilepsy. Currently, little is known about the temporal and spatial expression pattern of Lgi1 during normal embryogenesis and so to define this more clearly we used a transgenic mouse line that expresses GFP under the control of Lgi1 cis-regulatory elements. RESULTS: During embryonic brain growth, high levels of Lgi1 expression were found in the surface ectoderm, the neuroepithelium, mesenchymal connective tissue, hippocampus, and sensory organs, such as eye, tongue, and the olfactory bulb...
2011: BMC Neuroscience
Thomas M Freiman, Jessica Eismann-Schweimler, Michael Frotscher
Granule cell dispersion is a characteristic feature of Ammon's horn sclerosis in temporal lobe epilepsy. It was recently shown that granule cell dispersion is associated with decreased expression of the extracellular matrix protein Reelin. Reelin controls neuronal lamination and the differentiation of dendrites and spines. Here, we studied dendritic orientation and the distribution of dendritic spines on granule cells in surgical specimens of patients suffering from temporal lobe epilepsy. In this material, we compared granule cells in dentate areas showing granule cell dispersion with granule cells in areas exhibiting a normal, densely packed granule cell layer...
June 2011: Experimental Neurology
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