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https://www.readbyqxmd.com/read/29229893/prognostic-factors-for-epilepsy-following-first-febrile-seizure-in-saudi-children
#1
Abdullah I Almojali, Anwar E Ahmed, Muhammed Y Bagha
BACKGROUND: Febrile seizure is the most common convulsive event during childhood, but it is generally considered benign. OBJECTIVES: To estimate the rate of epilepsy after first presentation of febrile seizure and to describe factors that can predispose children to have subsequent epilepsy after their first febrile seizure. DESIGN: Retrospective chart review. SETTING: A tertiary care center in Riyadh. PATIENTS AND METHODS: All children whose first febrile seizure developed between 2009-2012, and who were admitted to the pediatric wards...
November 2017: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/29215089/genetic-analysis-of-benign-familial-epilepsies-in-the-first-year-of-life-in-a-chinese-cohort
#2
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/29213044/-the-course-and-development-of-epilepsy-in-patients-with-typical-variant-of-rett-syndrome-and-mutations
#3
M Yu Bobylova, I V Ivanova, I V Nekrasova, O A Pylaeva, K Yu Mukhin, A A Kholin, Ek S Iljina, A V Kulikov, El S Iljina, Yu E Nesterovsky
AIM: To study the anamnesis, clinical state, electro-encephalographic and brain MRI characteristics in patients with Rett syndrome (МЕСР2) and epilepsy. MATERIAL AND METHODS: Eleven female patients, aged from 3 to 23 years, with Rett syndrome and MeCP2 mutations were studied. The study continued for 10 years (2006-2015). Assessment of neurological and mental status, night sleep video-EEG monitoring, MRI were performed. RESULTS AND CONCLUSION: Epilepsy was diagnosed in six cases (54...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29208197/-treatment-of-rolandic-epilepsy
#4
Maria Jose Miranda, Banoo Bakir Ahmad
Recent literature indicates, that rolandic epilepsy/epilepsy of childhood with centrotemporal spikes may not be as benign as previously assumed. This study investigates the existing evidence, which describes the treatment effects on seizure frequency as well as improvement of cognition in children with rolandic epilepsy. We conclude, that treatment with anti-epileptic drugs could be justified, if treatment reduces seizures, prevents the evolution to atypical forms, or diminishes the negative cognitive consequences associated with the disease...
November 27, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29206330/differential-patterns-of-dynamic-functional-connectivity-variability-of-striato-cortical-circuitry-in-children-with-benign-epilepsy-with-centrotemporal-spikes
#5
Rong Li, Wei Liao, Yangyang Yu, Heng Chen, Xiaonan Guo, Ye-Lei Tang, Huafu Chen
Benign epilepsy with centrotemporal spikes (BECTS) is characterized by abnormal (static) functional interactions among cortical and subcortical regions, regardless of the active or chronic epileptic state. However, human brain connectivity is dynamic and associated with ongoing rhythmic activity. The dynamic functional connectivity (dFC) of the distinct striato-cortical circuitry associated with or without interictal epileptiform discharges (IEDs) are poorly understood in BECTS. Herein, we captured the pattern of dFC using sliding window correlation of putamen subregions in the BECTS (without IEDs, n = 23; with IEDs, n = 20) and sex- and age-matched healthy controls (HCs, n = 28) during rest...
December 5, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/29132468/-benign-infantile-convulsions-associated-with-mild-gastroenteritis-a-clinical-analysis-and-follow-up-study
#6
Chao-Chao Xue, Ya-Feng Liang, Guo-Quan Pan, Chang-Chong Li
OBJECTIVE: To study the clinical features and prognosis of benign infantile convulsions associated with mild gastroenteritis (BICE). METHODS: A retrospective analysis was performed for the clinical data of 436 children with BICE, and among these children, 206 were followed up for 1.5 to 7 years. Some parents were invited to complete the Weiss Functional Defect Scale to evaluate the long-term social function. RESULTS: The peak age of onset of BICE was 13-24 months, and BICE had a higher prevalence rate in September to February of the following year...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29127859/the-risk-of-subsequent-epilepsy-in-children-with-febrile-seizure-after-5-years-of-age
#7
Pinar Gencpinar, Hamdi Yavuz, Öznur Bozkurt, Şenay Haspolat, Özgür Duman
PURPOSE: Despite their age-dependent definition, febrile seizures (FS) may be observed in people of almost any age. The risk of developing unprovoked seizures after an FS is well defined. However, there are limited data about FS starting or persisting after 5 years of age. In the present study, we evaluated patients who developed FS after 5 years of age. METHOD: Between 2010 and 2014, we prospectively enrolled all patients with FS. We collected demographic and clinical features, radiologic images, electroencephalograms (EEGs), and results of psychomotor development tests and treatment data of the patients...
November 6, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29106865/benign-rolandic-epilepsy-presenting-like-paradoxical-vocal-fold-motion
#8
Jennifer H Gross, Mary Bertrand, Keiko Hirose
Paradoxical vocal fold motion (PVFM) is characterized by vocal fold adduction during respiration. Benign Rolandic epilepsy (BRE) is the most common childhood epilepsy and can cause oropharyngolaryngeal or facial manifestations. A 9-year-old male presented with intermittent apnea lasting 30-60 seconds and presumed PVFM. The patient's physical and fiberoptic exam were normal. He was admitted and found to have episodes of oxygen desaturation, neck twitching, and tongue burning. An EEG revealed focal epilepsy. After starting anti-epileptic medications, he had resolution of symptoms...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29106684/frontal-lobe-epilepsy-surgery-in-childhood-and-adolescence-predictors-of-long-term-seizure-freedom-overall-cognitive-and-adaptive-functioning
#9
Georgia Ramantani, Navah Ester Kadish, Hans Mayer, Constantin Anastasopoulos, Kathrin Wagner, Gitta Reuner, Karl Strobl, Susanne Schubert-Bast, Gert Wiegand, Armin Brandt, Rudolf Korinthenberg, Irina Mader, Vera van Velthoven, Josef Zentner, Andreas Schulze-Bonhage, Thomas Bast
BACKGROUND: Although frontal lobe resections account for one-third of intralobar resections in pediatric epilepsy surgery, there is a dearth of information regarding long-term seizure freedom, overall cognitive and adaptive functioning. OBJECTIVE: To identify outcome predictors and define the appropriate timing for surgery. METHODS: We retrospectively analyzed the data of 75 consecutive patients aged 10.0 ± 4.9 yr at surgery that had an 8...
July 5, 2017: Neurosurgery
https://www.readbyqxmd.com/read/29096685/clinical-spectrum-of-woolly-hair-indications-for-cerebral-involvement
#10
Piero Pavone, Raffaele Falsaperla, Massimo Barbagallo, Agata Polizzi, Andrea D Praticò, Martino Ruggieri
BACKGROUND: Woolly Hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp or covering the entire side and occurring in non-black people. Isolated or localized wooly hair is usually benign and is not related to other disorders and/or complications. On the contrary, the generalized type may be related to disorders and syndromes affecting heart, cutis, liver and gastrointestinal organs. Among the syndromes presenting with wooly hair, the most known are the Naxos syndrome, the Carvajal-Huerta syndrome, the wooly hair/hypotrichosis, the ectodermal dysplasia-skin fragility, the tricho-hepato-enteric syndrome...
November 2, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29095389/paroxysmal-tonic-upgaze-in-children-three-case-reports-and-a-review-of-the-literature
#11
Ayse Kartal
BACKGROUND: In clinical practice, nonepileptic paroxysmal events during infancy and childhood are common reasons for parents and caregivers to seek for medical advice. These events are mostly unrecognized and considered as an epileptic seizure because of the clinical features resembling an epileptic seizure. Paroxysmal tonic upgaze, which consists of recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness, is a diagnostic challenge for the pediatrician and pediatric neurologist...
October 31, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29062689/occipital-dysembryoplastic-neuroepithelial-tumor-presenting-as-adult-onset-temporal-epilepsy
#12
Riddhi Patira, Cody Nathan, Sarah Zubkov, Camilo Gutierrez, Charles Munyon, Abir Mukherjee, Mercedes Jacobson
Dysembryoplastic neuroepithelial tumor (DNET) is a benign brain tumor which commonly presents as childhood-onset temporal lobe epilepsy (TLE). We present a case of histologically proven DNET with a clinical presentation and scalp EEG suggestive of adult-onset TLE. MRI showed an occipital lesion. PET showed abnormal metabolism of the occipital lesion and the ipsilateral temporal lobe; raising concern for an abnormal functional network reorganization. Intracranial EEG showed interictal spikes and seizures originating from the occipital lesion with no seizures emanating from the temporal lobe...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/29057851/type-and-etiology-of-pediatric-epilepsy-in-jordan-a-multi-center-study
#13
Abdelkarim A Al-Qudah, Abla Albsoul-Younes, Amira T Masri, Samah K AbuRahmah, Ibrahim A Alabadi, Omar A Nafi, Lubna F Gharaibeh, Amer A Murtaja, Lina H Al-Sakran, Haya A Arabiat, Abdallah A Al-Shorman
OBJECTIVE: To study types and etiologies of epilepsy in Jordanian pediatric epileptic patients maintained on antiepileptic drugs using customized classification scheme of International League Against Epilepsy (ILAE) (2010) report. METHODS: This is a cross-sectional, multi-centre study on pediatric epileptic patients on antiepileptic drugs, who were managed in the pediatric neurology clinics at 6 teaching public hospitals in Jordan. RESULTS: Out of the 663 patients included in the study, (90...
October 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/29056244/grin2a-mutations-in-epilepsy-aphasia-spectrum-disorders
#14
Xiaoling Yang, Ping Qian, Xiaojing Xu, Xiaoyan Liu, Xiru Wu, Yuehua Zhang, Zhixian Yang
OBJECTIVE: Epilepsy-aphasia spectrum (EAS) are a group of epilepsy syndromes denoting an association between epilepsy, speech disorders and the EEG signature of centrotemporal spikes. Mutations in the GRIN2A gene, encoding the NMDA glutamate receptor α2 subunit were reported in focal epilepsy with speech disorder. We aimed to explore the role of GRIN2A mutations in patients with centrotemporal spikes related epileptic syndromes in a Chinese cohort. METHODS: Patients with Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS), atypical benign partial epilepsy (ABPE), and benign epilepsy with centrotemporal spikes (BECTS) were recruited...
October 19, 2017: Brain & Development
https://www.readbyqxmd.com/read/29055263/sub-cortical-brain-morphometry-and-its-relationship-with-cognition-in-rolandic-epilepsy
#15
Mahsa Shakeri, Alexandre N Datta, Domitille Malfait, Nadine Oser, Laurent Létourneau-Guillon, Philippe Major, Myriam Srour, Alan Tucholka, Samuel Kadoury, Sarah Lippé
PURPOSE: Rolandic epilepsy (RE), also called benign epilepsy with centrotemporal spikes (BECTS) is the most common childhood epilepsy syndrome. RE is associated with cognitive difficulties, which can affect children's quality of life. The underlying causes of these cognitive impairments are unclear. The objective of this prospective study is to investigate sub-cortical morphological alterations in RE children with left, right, or bilateral hemispheric focus and its association with cognition...
October 7, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29053855/rare-gabra3-variants-are-associated-with-epileptic-seizures-encephalopathy-and-dysmorphic-features
#16
Cristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, Agnieszka Charzewska, Julian Schubert, Tally Lerman-Sagie, Hester Y Kroes, Renske Oegema, Monica Traverso, Nicola Specchio, Maria Lassota, Jamel Chelly, Odeya Bennett-Back, Nirit Carmi, Tal Koffler-Brill, Michele Iacomino, Marina Trivisano, Giuseppe Capovilla, Pasquale Striano, Magdalena Nawara, Sylwia Rzonca, Ute Fischer, Melanie Bienek, Corinna Jensen, Hao Hu, Holger Thiele, Janine Altmüller, Roland Krause, Patrick May, Felicitas Becker, Rudi Balling, Saskia Biskup, Stefan A Haas, Peter Nürnberg, Koen L I van Gassen, Holger Lerche, Federico Zara, Snezana Maljevic, Esther Leshinsky-Silver
Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical syndromes with various degrees of severity arise from a single gene, a single mutation, or from different mutations showing similar functional defects. Accordingly, several genes coding for GABAA receptor subunits have been linked to a spectrum of benign to severe epileptic disorders and it was shown that a loss of function presents the major correlated pathomechanism...
November 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29046145/experimental-treatment-options-in-absence-epilepsy
#17
Gilles van Luijtelaar, Mehrnoush Zobeiri, Annika Lüttjohann, Antoine Depaulis
BACKGROUND: The benign character of absence epilepsy compared to other genetic generalized epilepsy syndromes has often hampered the search for new treatment options. Absence epilepsy is most often treated with ethosuximide or valproic acid. However, both drugs are not always well tolerated or fail, and seizure freedom for a larger proportion of patients remains to be achieved. The availability of genuine animal models of epilepsy does allow to search for new treatment options not only for absence epilepsy perse but also for other genetic - previously called idiopathic - forms of epilepsy...
October 17, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/29045978/-clinicopathologic-features-of-infant-dysembryoplastic-neuroepithelial-tumor-a-case-report-and-literature-review
#18
H Wang, J T Ye, H X Yao, D Li, Y Dong
Dysembryoplastic neuroepithelial tumor (DNT) has traditionally been viewed as rare benign tumors that present with seizure widely considered curable with surgery alone. Most DNTs occur in childhood and young adults. However, rare reported cases occur in infants. This paper reported an infant case of DNT and its diagnosis, differential diagnosis, treatment, molecular features and prognosis based on the review of current literatures. The age onset of this patient was only 11 months old. The clinical manifestations were partial seizures and the imaging data untypical; CT and MRI were all supportive of astrocytoma...
October 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28988213/management-of-pneumatosis-intestinalis-in-children-over-the-age-of-6-months-a-conservative-approach
#19
Leel Nellihela, Mohamed Mutalib, David Thompson, Kammermeier Jochen, Manasvi Upadhyaya
BACKGROUND: Pneumatosis intestinalis (PI) is an uncommon and poorly understood condition. Although it can be an incidental finding in asymptomatic individuals, it can also be secondary to life-threatening bowel ischaemia and sepsis. In premature infants, it is a pathognomonic sign of necrotising enterocolitis. There is no consensus regarding management and long-term outcome of children with PI. AIM: Review of our experience of PI in children beyond the early infantile period...
October 7, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28985496/domino-using-machine-learning-to-predict-genes-associated-with-dominant-disorders
#20
Mathieu Quinodoz, Beryl Royer-Bertrand, Katarina Cisarova, Silvio Alessandro Di Gioia, Andrea Superti-Furga, Carlo Rivolta
In contrast to recessive conditions with biallelic inheritance, identification of dominant (monoallelic) mutations for Mendelian disorders is more difficult, because of the abundance of benign heterozygous variants that act as massive background noise (typically, in a 400:1 excess ratio). To reduce this overflow of false positives in next-generation sequencing (NGS) screens, we developed DOMINO, a tool assessing the likelihood for a gene to harbor dominant changes. Unlike commonly-used predictors of pathogenicity, DOMINO takes into consideration features that are the properties of genes, rather than of variants...
October 5, 2017: American Journal of Human Genetics
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