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benign epilepsy

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https://www.readbyqxmd.com/read/29053855/rare-gabra3-variants-are-associated-with-epileptic-seizures-encephalopathy-and-dysmorphic-features
#1
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...
October 7, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29046145/experimental-treatment-options-in-absence-epilepsy
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/28965695/-evaluating-a-child-after-a-febrile-seizure-insights-on-three-important-issues
#6
S Auvin, M Antonios, G Benoist, M-A Dommergues, F Corrard, V Gajdos, C Gras Leguen, E Launay, A Salaün, L Titomanlio, L Vallée, M Milh
Febrile seizures (FS) are the most common seizures seen in the paediatric population in the out-of-hospital and emergency department settings, and they account for the majority of seizures seen in children younger than 5 years old. An FS is a seizure accompanied by fever, without central nervous system infection, occurring in children between 6 months and 5 years old. Five criteria have been used and taught to classify any FS as simple or complex FS. These factors do not bear the same significance for clinical practice, in particular, the decision to perform a lumbar puncture for cerebrospinal fluid analysis to rule out an intracranial infection...
September 28, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28927324/parasagittal-meningioma-a-not-so-benign-entity
#7
Roger W Byard
While the majority of intracranial meningiomas have an indolent clinical course, sudden and unexpected death may rarely occur. Two cases are reported to demonstrate rapid clinical deterioration resulting in death in individuals with large, grade I, parasagittal meningiomas. Case 1 was a 46-year-old man with a history of headaches and epilepsy who suddenly collapsed and died. A large right frontal parasagittal meningioma with haemorrhage had compressed the brain and lateral ventricle, causing tonsillar herniation...
January 1, 2017: Medicine, Science, and the Law
https://www.readbyqxmd.com/read/28926747/ictal-source-imaging-and-electroclinical-correlation-in-self-limited-epilepsy-with-centrotemporal-spikes
#8
Jørgen Alving, Martin Fabricius, Ivana Rosenzweig, Sándor Beniczky
PURPOSE: To elucidate the localization of ictal EEG activity, and correlate it to semiological features in self-limited epilepsy with centrotemporal spikes (formerly called "benign epilepsy with centrotemporal spikes"). METHODS: We have performed ictal electric source imaging, and we analysed electroclinical correlations in three patients with self-limited epilepsy with centrotemporal spikes. RESULTS: The source of the evolving rhythmic ictal activity (9...
September 14, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28923014/scn8a-mutations-in-chinese-patients-with-early-onset-epileptic-encephalopathy-and-benign-infantile-seizures
#9
Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu
BACKGROUND: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations. METHODS: To identify the pathogenic gene of a Chinese family, in which six members suffered from epilepsy, whole-exome sequencing was performed. In addition, target next-generation sequencing (NGS) was performed on 178 sporadic patients, who had epilepsy of unknown etiology within 6 months after birth...
September 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28919388/altered-brain-functional-connectivity-induced-by-physical-exercise-may-improve-neuropsychological-functions-in-patients-with-benign-epilepsy
#10
Gyan Raj Koirala, Dongpyo Lee, Soyong Eom, Nam-Young Kim, Heung Dong Kim
OBJECTIVE: The objective of this study was to elucidate alteration in functional connectivity (FC) in patients with benign epilepsy with centrotemporal spikes (BECTS) as induced by physical exercise therapy and their correlation to the neuropsychological (NP) functions. METHODS: We analyzed 115 artifact- and spike-free 2-second epochs extracted from resting state EEG recordings before and after 5weeks of physical exercise in eight patients with BECTS. The exact Low Resolution Electromagnetic Tomography (eLORETA) was used for source reconstruction...
September 15, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28882722/cognition-in-patients-with-benign-epilepsy-with-centrotemporal-spikes-a-study-with-long-term-veeg-and-rs-fmri
#11
Xinxin Yan, Qing Yu, Yuting Gao, Liting Li, Danhua Yu, Ying Chen, Xiaojuan Yao, Weidong Yang, Zhijuan Chen, Jianzhong Yin, Yang An, Ke Tan
OBJECTIVE: The purpose of this study was to investigate the relationship between alterations of functional brain network and cognition in patients with benign epilepsy with centrotemporal spikes (BECTS) as a function of spike-wave index (SWI) during slow wave sleep. METHODS: Resting-state functional magnetic resonance imaging (RS-fMRI) data and Intelligence Quotient (IQ) were collected from two groups of patients with BECTS, including a SWI<50% group (5 cases) and a SWI≥50% group (7 cases)...
September 4, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28870817/-prrt2-mutation-and-infantile-convulsions
#12
M Mathot, D Lederer, S Gerard, E Gueulette, M Deprez
New genetic techniques have made it possible to better understand the implications of the PRRT2 gene (proline rich transmembrane protein 2) in various neurological disorders. Mutations within this gene are responsible for kinesigenic paroxysmal dyskinesias (PKD) as well as for benign familial infantile epilepsy (BFIE), a disease associating infantile convulsions and choreoathetosis (ICCA), a form of familial hemiplegic migraine (FHM type 4), paroxysmal benign torticollis of childhood, and episodic ataxia. We describe the case of an infant, carrying a mutation of the PRRT2 gene, with a classical presentation...
September 1, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28866336/-atypical-forms-of-benign-epilepsy-with-centrotemporal-spikes-bects-how-to-diagnose-and-guide-these-children-a-practical-scientific-approach
#13
REVIEW
Pasquale Parisi, Maria Chiara Paolino, Umberto Raucci, Alessandro Ferretti, Maria Pia Villa, Dorothee Kasteleijn-Nolst Trenite
Benign epilepsy with centrotemporal spikes (BECTS) epilepsy, also known as rolandic epilepsy, is the most common childhood type of epilepsy. There is debate on its "benign" definition given the numerous literature data on its correlation to cognitive morbidity. Although its prognosis is often favorable, BECTS can present or evolve however to an atypical form, characterized by a worse prognosis and negative impact on cognitive development. It is possible that abnormal electrical activity, marker of neurological dysfunction, has the potential to disrupt neural network function and development...
October 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28864458/optimizing-genomic-medicine-in-epilepsy-through-a-gene-customized-approach-to-missense-variant-interpretation
#14
Joshua Traynelis, Michael Silk, Quanli Wang, Samuel F Berkovic, Liping Liu, David B Ascher, David J Balding, Slavé Petrovski
Gene panel and exome sequencing have revealed a high rate of molecular diagnoses among diseases where the genetic architecture has proven suitable for sequencing approaches, with a large number of distinct and highly penetrant causal variants identified among a growing list of disease genes. The challenge is, given the DNA sequence of a new patient, to distinguish disease-causing from benign variants. Large samples of human standing variation data highlight regional variation in the tolerance to missense variation within the protein-coding sequence of genes...
October 2017: Genome Research
https://www.readbyqxmd.com/read/28832891/outcome-of-cancer-related-seizures-in-patients-treated-with-lacosamide
#15
M Toledo, A Molins, M Quintana, E Santamarina, F Martinez-Ricarte, E Martínez-Saez, J Salas-Puig
OBJECTIVES: Lacosamide is an antiepileptic drug (AED), which has proven to be effective to control seizures, including acute conditions such as status epilepticus. The aim of this study is to describe the clinical experience with lacosamide in neuro-oncological patients. MATERIALS AND METHODS: Multicenter retrospective study in patients with cancer-related seizures, who received lacosamide as an add-on therapy. RESULTS: Forty-eight patients with benign and malignant tumors, including primary brain tumors, lymphomas, systemic cancer with central nervous system involvement, or paraneoplastic encephalitis, were included...
August 22, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28822871/altered-language-network-in-benign-childhood-epilepsy-patients-with-spikes-from-non-dominant-side-a-resting-state-fmri-study
#16
Jiajia Fang, Sihan Chen, Cheng Luo, Qiyong Gong, Dongmei An, Dong Zhou
Benign childhood epilepsy with centrotemporal spikes (BECTS) is one of the most common childhood epilepsy syndromes, and language deficits associated with BECTS have become a hot topic. This study investigated alterations of the language network in BECTS children with spikes from the non-dominant side in comparison with healthy controls. Twenty-three children with BECTS and 20 age-matched healthy controls were enrolled. Region of interest -based whole brain functional connectivity analysis was used to identify the potential differences in the functional connectivity of the Broca's area between the two groups...
October 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28815953/epilepsy-in-fragile-x-syndrome-mimicking-panayiotopoulos-syndrome-description-of-three-patients
#17
Paolo Bonanni, Susanna Casellato, Franco Fabbro, Susanna Negrin
Fragile-X-syndrome is the most common cause of inherited intellectual disability. Epilepsy is reported to occur in 10-20% of individuals with Fragile-X-syndrome. A frequent seizure/electroencephalogram (EEG) pattern resembles that of benign rolandic epilepsy. We describe the clinical features, EEG findings and evolution in three patients affected by Fragile-X-syndrome and epilepsy mimicking Panayiotopoulos syndrome. Age at seizure onset was between 4 and about 7 years. Seizures pattern comprised a constellation of autonomic symptoms with unilateral deviation of the eyes and ictal syncope...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815192/epileptic-negative-myoclonus-as-the-first-and-only-symptom-in-a-challenging-diagnosis-of-benign-epilepsy-with-centrotemporal-spikes
#18
Jing Chen, Guo Zheng, Hu Guo, Xiaopeng Lu, Chunfeng Wu, Xiaoyu Wang, Wei Tao
OBJECTIVE: To investigate the clinical and neurophysiological characteristics of epileptic negative myoclonus as the first and only ictal symptom of benign epilepsy with centrotemporal spikes. METHODS: Electrophysiological evaluations included polygraphic recordings with simultaneous video electroencephalogram monitoring and tests performed with patient's upper limb outstretched in standing posture. Epileptic negative myoclonus manifestations, electrophysiological features, and responses to antiepileptic drugs were analyzed...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28815171/functional-analysis-of-na-h-exchanger-9-variants-identified-in-patients-with-autism-and-epilepsy
#19
Hari Prasad, James Osei-Owusu, Rajini Rao
Na(+)/H(+) exchanger isoform 9, NHE9, finely tunes the pH within the endosomal lumen to regulate cargo trafficking and turnover. In patients with autism, genetic approaches have revealed deletions, truncations and missense mutations in the gene encoding NHE9 (SLC9A9). To help establish causality, functional evaluation is needed to distinguish pathogenic mutations from harmless polymorphisms. Here, we evaluated three previously uncharacterized NHE9 variants, P117T, D496N, and Q609K reported in patients with autism and epilepsy...
April 2017: Matters (Zur)
https://www.readbyqxmd.com/read/28811058/early-detection-of-tuberous-sclerosis-complex-an-opportunity-for-improved-neurodevelopmental-outcome
#20
Clara W T Chung, John A Lawson, Vanessa Sarkozy, Kate Riney, Orli Wargon, Antonia W Shand, Stephen Cooper, Harrison King, Sean E Kennedy, David Mowat
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition associated with epilepsy, benign tumors, and variable neurodevelopmental outcomes. The diagnosis is most commonly made after epilepsy onset, although a proportion are diagnosed prenatally. Presymptomatic or early treatment with agents such as vigabatrin offers the hope of improved neurodevelopmental outcome. Therefore early diagnosis, before the onset of seizures, is important. In a cohort of children with TSC, we evaluated the age and mode of initial presentation, assessed the neurocognitive and epilepsy outcome, and analyzed whether those diagnosed before the onset of seizures have a different outcome compared with those diagnosed postseizures...
May 26, 2017: Pediatric Neurology
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