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https://www.readbyqxmd.com/read/28442529/coinheritance-of-novel-mutations-in-scn1a-causing-gefs-and-in-kdm6a-causing-kabuki-syndrome-in-a-family
#1
Jisun Kim, Cha Gon Lee
Because the differentiation between phenotypic expansion and blended phenotypes is not clear, the mixed phenotypes of blended rare genetic diseases make diagnosis difficult. We describe a family with the co-existence and co-segregation of generalized epilepsy with febrile seizures plus (GEFS+) and Kabuki syndrome (KS). The proband, a 7-year-old male, presented with GEFS+, dysmorphic facial features, short stature, developmental delay, and intellectual disability. Two novel missense mutations: p.G325A in the KDM6A gene responsible for KS and p...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28441409/a-hypomorphic-piga-gene-mutation-causes-severe-defects-in-neuron-development-and-susceptibility-to-complement-mediated-toxicity-in-a-human-ipsc-model
#2
Xuan Yuan, Zhe Li, Andrea C Baines, Eleni Gavriilaki, Zhaohui Ye, Zhexing Wen, Evan M Braunstein, Leslie G Biesecker, Linzhao Cheng, Xinzhong Dong, Robert A Brodsky
Mutations in genes involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis underlie a group of congenital syndromes characterized by severe neurodevelopmental defects. GPI anchored proteins have diverse roles in cell adhesion, signaling, metabolism and complement regulation. Over 30 enzymes are required for GPI anchor biosynthesis and PIGA is involved in the first step of this process. A hypomorphic mutation in the X-linked PIGA gene (c.1234C>T) causes multiple congenital anomalies hypotonia seizure syndrome 2 (MCAHS2), indicating that even partial reduction of GPI anchored proteins dramatically impairs central nervous system development, but the mechanism is unclear...
2017: PloS One
https://www.readbyqxmd.com/read/28438504/agomelatine-protects-against-neuronal-damage-without-preventing-epileptogenesis-in-the-kainate-model-of-temporal-lobe-epilepsy
#3
Jana Tchekalarova, Dimitrinka Atanasova, Zlatina Nenchovska, Milena Atanasova, Lidia Kortenska, Rumyana Gesheva, Nikolai Lazarov
Recent studies about the novel antidepressant agomelatine, which is a mixed MT1 and MT2 melatonin receptor agonist and 5HT2C serotonin receptor antagonist possessing an anticonvulsant and neuroprotective action, suggest that it may have potential to contribute against epileptogenesis and epilepsy-induced memory impairment. In order to ascertain whether protection of some brain structures could suppress epileptogenesis, in the present study, we evaluated the effect of chronic post-status treatment with agomelatine on epileptogenesis, behavioral and neuronal damage induced by kainate acid (KA) status epilepticus (SE)...
April 21, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28434623/does-unilateral-insular-resection-disturb-personality-a-study-with-epileptic-patients
#4
Benjamin Hébert-Seropian, Olivier Boucher, Carole Sénéchal, Isabelle Rouleau, Alain Bouthillier, Franco Lepore, Dang Khoa Nguyen
The insula is now regarded as a potential site of epileptogenesis in drug-resistant epilepsy, and the advent of microsurgical techniques has allowed insular cortectomy to become a treatment of choice when the insular cortex is involved in the seizure focus. However, considering the evidence of an insular role in socio-emotional processing, it remains unknown whether these cortical resections disturb personality and social behavior as experienced in daily life. We examined such changes in a group of patients (n=19) who underwent epilepsy surgery involving partial or complete resection of the insula, and compared them to a group of patients who underwent standard temporal lobe epilepsy (TLE) surgery (n=19) as a lesion-control group...
April 20, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28434139/neurological-manifestations-of-atypical-celiac-disease-in-childhood
#5
Çiğdem Genç Sel, Erhan Aksoy, Ayşe Aksoy, Deniz Yüksel, Ferda Özbay
Various typical and atypical neurological manifestations can be seen as the initial symptoms of celiac disease (CD). We suggest that gluten toxicity is the most suspicious triggering risk factor for probable pathophysiological pathways of neurological involvement in atypical CD. The medical charts of 117 patients diagnosed with atypical CD were retrieved from a tertiary center in Ankara, Turkey. Eight patients reported as having neurologic manifestations as initiating symptoms were evaluated in detail. The initial neurological manifestations of CD in our study included atypical absence, which was reported first in this study, generalized tonic-clonic seizures, complex partial seizures, severe axial hypotonia and down phenotype, multifocal leukoencephalopathy, mild optic neuritis, attention deficit hyperactivity disorder, and short duration headaches...
April 22, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28434133/stiripentol-in-the-management-of-epilepsy
#6
REVIEW
Katherine C Nickels, Elaine C Wirrell
Stiripentol is a structurally unique antiepileptic drug that has several possible mechanisms of action, including diverse effects on the gamma-aminobutyric acid (GABA)-A receptor and novel inhibition of lactate dehydrogenase. Because of its inhibition of several cytochrome P450 enzymes, it has extensive pharmacokinetic interactions, which often necessitates reduction in doses of certain co-therapies, particularly clobazam. Stiripentol also has a neuroprotective action, by reducing calcium-mediated neurotoxicity...
April 22, 2017: CNS Drugs
https://www.readbyqxmd.com/read/28431383/protocolized-hyperventilation-enhances-electroconvulsive-therapy
#7
Aida de Arriba-Arnau, Antonia Dalmau, Virginia Soria, Neus Salvat-Pujol, Carmina Ribes, Ana Sánchez-Allueva, José Manuel Menchón, Mikel Urretavizcaya
BACKGROUND: Hyperventilation is recommended in electroconvulsive therapy (ECT) to enhance seizures and to increase patients' safety. However, more evidence is needed regarding its effects and the optimum method of application. METHODS: This prospective study involving 21 subjects compared two procedures, protocolized hyperventilation (PHV) and hyperventilation as usual (HVau), applied to the same patient in two consecutive sessions. Transcutaneous partial pressure of carbon dioxide (TcPCO2) was measured throughout all sessions...
April 13, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28431043/male-gender-associated-with-post-treatment-seizure-risk-of-pediatric-arteriovenous-malformation-patients
#8
Wuyang Yang, Erick M Westbroek, Heather Anderson-Keightly, Justin M Caplan, Xiaoming Rong, Alice L Hung, Maria Braileanu, Joanna Y Wang, Geoffrey P Colby, Alexander L Coon, Rafael J Tamargo, Edward S Ahn, Judy Huang
BACKGROUND: Seizure risk has not been fully characterized in pediatric patients with arteriovenous malformations (AVMs). OBJECTIVE: To describe the progression and risk factors of post-treatment seizure in children with AVMs. METHODS: We retrospectively reviewed pediatric patients diagnosed with intracranial AVMs at our institution between 1990 and 2013. Clinical and angiographic variables were included in univariate and multivariate Cox proportional hazard models to explore risk factors associated with time-related seizure outcomes...
April 20, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28427026/epilepsy-and-headaches-further-evidence-of-a-link
#9
Asli Ece Çilliler, Hayat Güven, Selim Selçuk Çomoğlu
OBJECTIVE: Epilepsy and primary headaches are two of the most common neurologic conditions that share some common clinical characteristics, and can affect individuals of all age groups around the world. In recent years, the underlying pathophysiologic mechanisms potentially common to both headaches and epileptic seizures have been the subject of scrutiny. The objective of this study was to determine the frequencies and types of headaches in patients with epilepsy, and evaluate any temporal relationship with epileptic seizures...
April 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28422438/moyamoya-syndrome-in-children-with-neurofibromatosis-type-1-italian-french-experience
#10
Claudia Santoro, Federico Di Rocco, Manoelle Kossorotoff, Michel Zerah, Nathalie Boddaert, Raphael Calmon, Dominique Vidaud, Mario Cirillo, Giuseppe Cinalli, Giuseppe Mirone, Teresa Giugliano, Giulio Piluso, Alessandra D'Amico, Valeria Capra, Marco Pavanello, Armando Cama, Bruno Nobili, Stanislas Lyonnet, Silverio Perrotta
Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibromatosis type 1 (NF1). In this study, we clinically, radiologically, and genetically examined a cohort that was not previously described, comprising European children with NF1 and MMS. The NF1 genotyping had been registered. This study included 18 children. The mean age was 2.93 ± 3.03 years at the NF1 diagnosis and 7.43 ± 4.27 years at the MMS diagnosis. In seven patients, MMS was diagnosed before or at the same time as NF1...
April 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28415676/nitrobenzylthioinosine-mimics-adenosine-to-attenuate-the-epileptiform-discharge-of-hippocampal-neurons-from-epileptic-rats
#11
Hao Huang, Jing Wang, Jun Zhang, Zhong Luo, Dongxu Li, Xiaowei Qiu, Yan Peng, Zhongxiang Xu, Ping Xu, Zucai Xu
Nitrobenzylthioinosine (NBTI), a specific inhibitor of type 1 equilibrative nucleoside transporter, could regulate the extracellular adenosine concentration and have protective roles in seizures. However, the protection mechanism of NBTI in seizures remains poorly understood. Here, the expression pattern and subcellular distribution of adenosine A1 receptor were detected by Western blot analysis and double-labeling immunofluorescence staining in Lithium Chloride-Pilocarpine induced epileptic rat model. At 24 h after pilocarpine induced rat seizures, hippocampal slices were prepared and the evoked excitatory postsynaptic currents (eEPSCs) amplitude of pyramidal neurons in hippocampus CA1 region was recorded using whole-cell patch clamp...
March 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28411125/hypersociability-in-the-angelman-syndrome-mouse-model
#12
David C Stoppel, Matthew P Anderson
Deletions and reciprocal triplications of the human chromosomal 15q11-13 region cause two distinct neurodevelopmental disorders. Maternally-derived deletions or inactivating mutations of UBE3A, a 15q11-13 gene expressed exclusively from the maternal allele in neurons, cause Angelman syndrome, characterized by intellectual disability, motor deficits, seizures, and a characteristic increased social smiling, laughing, and eye contact. Conversely, maternally-derived triplications of 15q11-13 cause a behavioral disorder on the autism spectrum with clinical features that include decreased sociability that we recently reconstituted in mice with Ube3a alone...
April 11, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28407524/age-at-surgery-as-a-predictor-of-cognitive-improvements-in-patients-with-drug-resistant-temporal-epilepsy
#13
Irene Cano-López, Juan Francisco Vázquez, Anabel Campos, Antonio Gutiérrez, Mercedes Garcés, Asier Gómez-Ibáñez, Rebeca Conde, Esperanza González-Bono, Vicente Villanueva
Temporal lobe epilepsy (TLE) surgery is an effective procedure that can produce cognitive changes. However, the prognostic factors related with cognitive outcomes need to be better understood. The aim of the present study is to know if age at surgery is a reliable predictor of verbal memory competence and considering factors such as: hemisphere; type of surgery; pre-surgical seizure frequency; and epilepsy duration. Sixty-one typically dominant patients with drug-resistant TLE (34 with left TLE [L-TLE] and 27 with right TLE [R-TLE]) underwent a neuropsychological assessment before and a year after surgery...
April 10, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28405089/right-hemispheric-reversible-cerebral-vasoconstriction-syndrome-in-a-patient-with-left-hemispheric-partial-seizures
#14
Gina S Perez, Justin McCaslin, Sadat Shamim
We report a right-handed 19-year-old girl who developed reversible cerebral vasoconstriction syndrome (RCVS) lateralized to the right hemisphere with simultaneous new-onset left hemispheric seizures. RCVS, typically more diffuse, was lateralized to one of the cerebral hemispheres.
April 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28398014/brain-responsive-neurostimulation-in-patients-with-medically-intractable-mesial-temporal-lobe-epilepsy
#15
Eric B Geller, Tara L Skarpaas, Robert E Gross, Robert R Goodman, Gregory L Barkley, Carl W Bazil, Michael J Berg, Gregory K Bergey, Sydney S Cash, Andrew J Cole, Robert B Duckrow, Jonathan C Edwards, Stephan Eisenschenk, James Fessler, Nathan B Fountain, Alicia M Goldman, Ryder P Gwinn, Christianne Heck, Aamar Herekar, Lawrence J Hirsch, Barbara C Jobst, David King-Stephens, Douglas R Labar, James W Leiphart, W Richard Marsh, Kimford J Meador, Eli M Mizrahi, Anthony M Murro, Dileep R Nair, Katherine H Noe, Yong D Park, Paul A Rutecki, Vicenta Salanova, Raj D Sheth, Donald C Shields, Christopher Skidmore, Michael C Smith, David C Spencer, Shraddha Srinivasan, William Tatum, Paul C Van Ness, David G Vossler, Robert E Wharen, Gregory A Worrell, Daniel Yoshor, Richard S Zimmerman, Kathy Cicora, Felice T Sun, Martha J Morrell
OBJECTIVE: Evaluate the seizure-reduction response and safety of mesial temporal lobe (MTL) brain-responsive stimulation in adults with medically intractable partial-onset seizures of mesial temporal lobe origin. METHODS: Subjects with mesial temporal lobe epilepsy (MTLE) were identified from prospective clinical trials of a brain-responsive neurostimulator (RNS System, NeuroPace). The seizure reduction over years 2-6 postimplantation was calculated by assessing the seizure frequency compared to a preimplantation baseline...
April 11, 2017: Epilepsia
https://www.readbyqxmd.com/read/28398008/source-localization-of-ictal-epileptic-activity-based-on-high-density-scalp-eeg-data
#16
Petros Nemtsas, Gwenael Birot, Francesca Pittau, Christoph M Michel, Karl Schaller, Serge Vulliemoz, Vasilios K Kimiskidis, Margitta Seeck
OBJECTIVE: Electrical source imaging (ESI) is a well-established approach to localizing the epileptic focus in drug-resistant focal epilepsy. So far, ESI has been used primarily on interictal events. Emerging evidence suggests that ictal ESI is also feasible and potentially useful. We aimed to investigate the diagnostic accuracy of ESI on ictal events using high-density electroencephalography (EEG). METHODS: We performed ictal ESI on 14 patients (9 with temporal lobe epilepsy) admitted for presurgical evaluation who presented seizures during a long-term (≥18 h) high-density EEG recording (13 with 256 electrodes and one with 128 electrodes), and subsequently 8 of them underwent epilepsy surgery (postoperative follow-up >1 year)...
April 11, 2017: Epilepsia
https://www.readbyqxmd.com/read/28396650/new-onset-refractory-status-epilepticus-with-claustrum-damage-definition-of-the-clinical-and-neuroimaging-features
#17
Stefano Meletti, Giada Giovannini, Giuseppe d'Orsi, Lisa Toran, Giulia Monti, Rahul Guha, Andreas Kiryttopoulos, Maria Grazia Pascarella, Tommaso Martino, Haris Alexopoulos, Martha Spilioti, Jana Slonkova
New-onset refractory status epilepticus (NORSE) is a rare but challenging condition occurring in a previously healthy patient, often with no identifiable cause. We describe the electro-clinical features and outcomes in a group of patients with NORSE who all demonstrated a typical magnetic resonance imaging (MRI) sign characterized by bilateral lesions of the claustrum. The group includes 31 patients (12 personal and 19 previously published cases; 17 females; mean age of 25 years). Fever preceded status epilepticus (SE) in 28 patients, by a mean of 6 days...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28395176/the-ketogenic-diet-metabolite-beta-hydroxybutyrate-%C3%AE-hb-reduces-incidence-of-seizure-like-activity-sla-in-a-katp-and-gabab-dependent-manner-in-a-whole-animal-drosophila-melanogaster-model
#18
Jinglu Li, Emma I O'Leary, Geoffrey R Tanner
The high-fat, low-carbohydrate ketogenic diet (KD) is an effective clinical treatment for epilepsy in juveniles, especially for drug-resistant seizures. The KD results in elevated production of ketone bodies (KB's), such as beta-hydroxybutyrate (β-HB), which are thought to have anticonvulsant properties; however, their exact mechanism of action is unknown. In vitro, KB effects on reducing neuronal firing rates are mediated in part by Katp channel activity and GABAb signaling. In order to study metabolic and pharmacological effects in a whole-animal model, we used the eas "bang-sensitive" (BS) mutant strain of Drosophila, which exhibits seizure-like activity (SLA) upon mechanical stimulation...
April 5, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28394442/brivaracetam-an-adjunctive-treatment-for-partial-onset-seizures
#19
REVIEW
John A Kappes, William J Hayes, Joe D Strain, Debra K Farver
Brivaracetam is an analogue of levetiracetam that is Food and Drug Administration-approved for adjunctive treatment of partial-onset seizures in patients 16 years and older. In placebo-controlled trials adjunct brivaracetam demonstrated efficacy in reducing the frequency of seizures. The most commonly reported adverse effects are somnolence, dizziness, and fatigue. Clinical trials have evaluated brivaracetam for safety and efficacy in adjunctive treatment of partial-onset seizures in patients 16 years and older for up to 16 weeks...
April 10, 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/28393434/multivisceral-transplantation-for-abdominal-tumors-in-children-a-single-center-experience-and-review-of-the-literature
#20
Eliza Lee, Nicole Hodgkinson, Rima Fawaz, Khashayar Vakili, Heung Bae Kim
Standard management of intra-abdominal pediatric solid tumors requires complete resection. However, tumors with multiple organ and vascular involvement present a unique surgical challenge. We conducted a retrospective chart review of four patients, aged 2-14 years, undergoing MVT for intra-abdominal tumors with significant involvement of the visceral arteries and/or portomesenteric venous system at our institution. Indications for MVT included hepatocellular carcinoma, inflammatory myofibroblastic tumor, and two cases of hepatoblastoma...
April 9, 2017: Pediatric Transplantation
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