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benign epilepsy

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https://www.readbyqxmd.com/read/29649723/the-relevance-of-attention-deficit-hyperactivity-disorder-in-self-limited-childhood-epilepsy-with-centrotemporal-spikes
#1
Ellen Marise Lima, Patricia Rzezak, Bernardo Dos Santos, Letícia Gentil, Maria A Montenegro, Marilisa M Guerreiro, Kette D Valente
In this study, we aimed to evaluate the attentional and executive functions in patients with benign childhood epilepsy with centrotemporal spikes (BCECTS) with and without attention-deficit hyperactivity disorder (ADHD) compared with controls and compared with patients with ADHD without epilepsy. We evaluated 12 patients with BCECTS and ADHD (66.7% boys; mean age of 9.67years); 11 children with non-ADHD BCECTS (63.6% boys; mean age of 11.91years); 20 healthy children (75% boys; mean age of 10.15years); and 20 subjects with ADHD without epilepsy (60% boys; mean age of 10...
April 9, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29645068/-frequency-semiology-and-prognosis-of-benign-infantile-epilepsy
#2
J Ramos-Lizana, G Martinez-Espinosa, M I Rodriguez-Lucenilla, J Aguirre-Rodriguez, P Aguilera-Lopez
INTRODUCTION: Benign infantile epilepsy is an epileptic syndrome of infancy. Until now, only a small number of case-series have been published. AIM: To study the frequency, semiology and prognosis of benign infantile epilepsy. PATIENTS AND METHODS: The 827 patients with one or more epileptic seizures seen at our hospital between 1 June 1994 and 1 March 2011 were included and prospectively followed. A diagnosis of benign infantile epilepsy was made in patients that fulfilled the following criteria at six month of evolution: one or more focal and/or generalised seizures, onset before 24 months, no neurological deficit and normal neuroimaging and interictal EEG...
April 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29629540/role-of-language-related-functional-connectivity-in-patients-with-benign-childhood-epilepsy-with-centrotemporal-spikes
#3
Hyeon Jin Kim, Jung Hwa Lee, Chang Hyun Park, Hye Sun Hong, Yun Seo Choi, Jeong Hyun Yoo, Hyang Woon Lee
BACKGROUND AND PURPOSE: Benign childhood epilepsy with centrotemporal spikes (BECTS) does not always have a benign cognitive outcome. We investigated the relationship between cognitive performance and altered functional connectivity (FC) in the resting-state brain networks of BECTS patients. METHODS: We studied 42 subjects, comprising 19 BECTS patients and 23 healthy controls. Cognitive performance was assessed using the Korean version of the Wechsler Intelligence Scale for Children-III, in addition to verbal and visuospatial memory tests and executive function tests...
January 2018: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29625812/scn2a-mutation-in-an-infant-presenting-with-migrating-focal-seizures-and-infantile-spasm-responsive-to-a-ketogenic-diet
#4
Da-Jyun Su, Jyh-Feng Lu, Li-Ju Lin, Jao-Shwann Liang, Kun-Long Hung
SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS). Thus far, no particularly effective treatment is available for severe epileptic encephalopathy caused by SCN2A mutations in children. We present the case of a boy who developed seizures on the third day of life and received a diagnosis of EIMFS based on his clinical presentations and electroencephalography reports...
April 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29614566/-spectrum-of-mutations-in-benign-familial-neonatal-infantile-epilepsy
#5
Q Zeng, Y H Zhang, X L Yang, L H Pu, J Zhang, A J Liu, Z X Yang, X Y Liu, X R Wu
Objective: To investigate the spectrum of mutations in families with benign familial neonatal-infantile epilepsy (BFNIE) . Methods: Clinical data and peripheral blood DNA samples of all BFNIE probands and their family members were collected from Peking University First Hospital between December 2012 and April 2016. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral blood samples with standard protoco1. Mutations in PRRT2 were screened using Sanger sequencing. For families that PRRT2 mutations were not detected by Sanger sequencing, candidate gene mutations were further screened by next-generation sequencing for epilepsy...
April 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29610055/language-function-in-childhood-idiopathic-epilepsy-syndromes
#6
D C Jackson, J E Jones, D A Hsu, C E Stafstrom, J J Lin, D Almane, M A Koehn, M Seidenberg, B P Hermann
PURPOSE: To examine the impact of diverse syndromes of focal and generalized epilepsy on language function in children with new and recent onset epilepsy. Of special interest was the degree of shared language abnormality across epilepsy syndromes and the unique effects associated with specific epilepsy syndromes. METHODS: Participants were 136 youth with new or recent-onset (diagnosis within past 12 months) epilepsy and 107 healthy first-degree cousin controls...
March 30, 2018: Brain and Language
https://www.readbyqxmd.com/read/29602081/juvenile-myoclonic-epilepsy-refractory-to-treatment-in-a-tertiary-referral-center
#7
Gonçalo Cação, Joana Parra, Shahidul Mannan, Sanjay M Sisodiya, Josemir W Sander
INTRODUCTION: Juvenile myoclonic epilepsy (JME) is an epileptic syndrome often regarded as one in which seizures are relatively easy to control. Individuals with JME, however, often require lifelong therapy to remain seizure-free, and a few have refractory epilepsy. We ascertained a population with JME and characterized a subgroup with refractory epilepsy. MATERIAL AND METHODS: We audited and reviewed clinical records of individuals diagnosed with JME identified via a sample of 6600 individuals in a clinical database from a specialized epilepsy clinic at a tertiary referral center...
March 26, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29593509/tantrums-emotion-reactions-and-their-eeg-correlates-in-childhood-benign-rolandic-epilepsy-vs-complex-partial-seizures-exploratory-observations
#8
Michael Potegal, Elena H Drewel, John T MacDonald
We explored associations between EEG pathophysiology and emotional/behavioral (E/B) problems of children with two types of epilepsy using standard parent questionnaires and two new indicators: tantrums recorded by parents at home and brief, emotion-eliciting situations in the laboratory. Children with Benign Rolandic epilepsy (BRE, N = 6) reportedly had shorter, more angry tantrums from which they recovered quickly. Children with Complex Partial Seizures (CPS, N = 13) had longer, sadder tantrums often followed by bad moods...
2018: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/29588950/decreased-functional-connectivity-within-a-language-subnetwork-in-benign-epilepsy-with-centrotemporal-spikes
#9
Colm J McGinnity, Anna B Smith, Siti N Yaakub, Sofia Weidenbach Gerbase, Anya Gammerman, Adam L Tyson, Tiffany K Bell, Marwa Elmasri, Gareth J Barker, Mark P Richardson, Deb K Pal
Objective: Benign epilepsy with centrotemporal spikes (BECTS, also known as Rolandic epilepsy) is a common epilepsy syndrome that is associated with literacy and language impairments. The neural mechanisms of the syndrome are not known. The primary objective of this study was to test the hypothesis that functional connectivity within the language network is decreased in children with BECTS. We also tested the hypothesis that siblings of children with BECTS have similar abnormalities. Methods: Echo planar magnetic resonance (MR) imaging data were acquired from 25 children with BECTS, 12 siblings, and 20 healthy controls, at rest...
June 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29571057/panayiotopoulos-syndrome-and-benign-partial-epilepsy-with-centro-temporal-spikes-a-comparative-incidence-study
#10
Elaine Weir, John Gibbs, Richard Appleton
PURPOSE: To compare the de novo incidence of Panayiotopoulos syndrome (PS, early-onset childhood occipital epilepsy) and a common epilepsy syndrome, benign epilepsy with centro-temporal spikes (BECTS), in children and young people. METHODS: The incidence of PS and BECTS was recorded over 16 months in a population of children and young people (aged <16 years) living within a specific geographic area and epilepsy network within the North West of England and North Wales and the catchment area of the tertiary paediatric epilepsy centre...
March 5, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29547828/benign-rolandic-epilepsy-and-generalized-paroxysms-a-study-of-13-patients
#11
Rodrigo Vargas, Lucas Beltrán, Rafael Lizama, Gabriela Reyes Valenzuela, Roberto Caraballo
PURPOSE: To present a retrospective study of 13 children with benign epilepsy with centrotemporal spikes (BECTS), also known as benign rolandic epilepsy (BRE), associated with generalized spikes and waves as the only EEG manifestation at onset. METHOD: Charts of children with typical clinical criteria of BRE electroclinically followed-up between February 2000 and February 2015 were reviewed. RESULTS: Among 309 patients who met the electroclinical criteria of BRE, we identified 13 children who presented with the typical clinical manifestations but who, on the EEG, only had generalized paroxysms at onset that continued along the course of the syndrome...
March 9, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29540446/benign-electroencephalography-pattern-mimicking-temporal-lobe-epilepsy
#12
EDITORIAL
Ahmed Abbas, Elfatih Suliman Ahmed, Noushad Shereef Mytheen
No abstract text is available yet for this article.
March 14, 2018: Practical Neurology
https://www.readbyqxmd.com/read/29507423/expansions-of-intronic-tttca-and-tttta-repeats-in-benign-adult-familial-myoclonic-epilepsy
#13
Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura, Miho Kawabe Matsukawa, Asao Fujiyama, Yasuko Toyoshima, Akiyoshi Kakita, Hitoshi Takahashi, Yutaka Suzuki, Sumio Sugano, Wei Qu, Kazuki Ichikawa, Hideaki Yurino, Koichiro Higasa, Shota Shibata, Aki Mitsue, Masaki Tanaka, Yaeko Ichikawa, Yuji Takahashi, Hidetoshi Date, Takashi Matsukawa, Junko Kanda, Fumiko Kusunoki Nakamoto, Mana Higashihara, Koji Abe, Ryoko Koike, Mutsuo Sasagawa, Yasuko Kuroha, Naoya Hasegawa, Norio Kanesawa, Takayuki Kondo, Takefumi Hitomi, Masayoshi Tada, Hiroki Takano, Yutaka Saito, Kazuhiro Sanpei, Osamu Onodera, Masatoyo Nishizawa, Masayuki Nakamura, Takeshi Yasuda, Yoshio Sakiyama, Mieko Otsuka, Akira Ueki, Ken-Ichi Kaida, Jun Shimizu, Ritsuko Hanajima, Toshihiro Hayashi, Yasuo Terao, Satomi Inomata-Terada, Masashi Hamada, Yuichiro Shirota, Akatsuki Kubota, Yoshikazu Ugawa, Kishin Koh, Yoshihisa Takiyama, Natsumi Ohsawa-Yoshida, Shoichi Ishiura, Ryo Yamasaki, Akira Tamaoka, Hiroshi Akiyama, Taisuke Otsuki, Akira Sano, Akio Ikeda, Jun Goto, Shinichi Morishita, Shoji Tsuji
Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy. Here we show that abnormal expansions of TTTCA and TTTTA repeats in intron 4 of SAMD12 cause benign adult familial myoclonic epilepsy (BAFME). Single-molecule, real-time sequencing of BAC clones and nanopore sequencing of genomic DNA identified two repeat configurations in SAMD12. Intriguingly, in two families with a clinical diagnosis of BAFME in which no repeat expansions in SAMD12 were observed, we identified similar expansions of TTTCA and TTTTA repeats in introns of TNRC6A and RAPGEF2, indicating that expansions of the same repeat motifs are involved in the pathogenesis of BAFME regardless of the genes in which the expanded repeats are located...
March 5, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29500070/screening-for-tsc1-and-tsc2-mutations-using-ngs-in-greek-children-with-tuberous-sclerosis-syndrome
#14
Anna Papadopoulou, Argyrios Dinopoulos, George Koutsodontis, Roser Pons, Pelagia Vorgia, Vasiliki Koute, Athanassios Vratimos, Dimitrios Zafeiriou
Tuberous Sclerosis Complex (TSC) is a rare neurocutaneous syndrome inherited by an autosomal dominant manner. The disorder is commonly manifested by the presence of multiple benign tumors located in numerous tissues, including the brain, heart, skin and kidneys. Seizures, autism, developmental and behavioral delay, as well as non-neurological phenotypic findings, are suggestive of TSC. The identification of one pathogenic mutation in either the TSC1 or TSC2 genes is considered to be an independent diagnostic criterion...
February 9, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29475094/effects-of-levetiracetam-and-sulthiame-on-eeg-in-benign-epilepsy-with-centrotemporal-spikes-a-randomized-controlled-trial
#15
Moritz Tacke, Ingo Borggraefe, Lucia Gerstl, Florian Heinen, Katharina Vill, Michaela Bonfert, Thomas Bast, Bernd Axel Neubauer, Friedrich Baumeister, Martina Baethmann, Karl Bentele, Christian Blank, Harald M Blank, Harald Bode, Friedrich Bosch, Ulrich Brandl, Knut Brockmann, Peter Dahlem, Jan-Peter Ernst, Evemarie Feldmann, Andreas Fiedler, Michael Gerigk, Soeren Heß, Christiane Hikel, Hans-Georg Hoffmann, Matthias Kieslich, Joerg Klepper, Gerhard Kluger, Hartmut Koch, Walter Koch, Rudolf Korinthenberg, Ilona Krois, Hermann Kühne, Gerhard Kurlemann, Michaela Mandl, Ulrike Mause, Peter Navratil, Joachim Opp, Johann Penzien, Viola Prietsch, Axel Quattländer, Dietz Rating, Ulrike Schara, Mohammed G Shamdeen, Andreas Sprinz, Hildegard Wendker-Magrabi, Ulrich Stephani, Hiltrud Muhle, Hans-Michael Straßburg, Bärbel Töpke, Regina Trollmann, Elisabeth Tuschen-Hofstätter, Stephan Waltz, Gabriele Weber, Frank U Wien, Markus Wolff, Tilman Polster, Hedwig Freitag, Ötzcam Sönmez, Klaus Reinhardt, Marion Traus, Zeecam Hoovey
PURPOSE: BECTS (benign childhood epilepsy with centrotemporal spikes) is associated with characteristic EEG findings. This study examines the influence of anti-convulsive treatment on the EEG. METHODS: In a randomized controlled trial including 43 children with BECTS, EEGs were performed prior to treatment with either Sulthiame or Levetiracetam as well as three times under treatment. Using the spike-wave-index, the degree of EEG pathology was quantified. The EEG before and after initiation of treatment was analyzed...
February 3, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29467710/structural-covariance-network-of-cortical-gyrification-in-benign-childhood-epilepsy-with-centrotemporal-spikes
#16
Lin Jiang, Tijiang Zhang, Fajin Lv, Shiguang Li, Heng Liu, Zhiwei Zhang, Tianyou Luo
Benign childhood epilepsy with centrotemporal spikes (BECTS) is associated with cognitive and language problems. According to recent studies, disruptions in brain structure and function in children with BECTS are beyond a Rolandic focus, suggesting atypical cortical development. However, previous studies utilizing surface-based metrics (e.g., cortical gyrification) and their structural covariance networks at high resolution in children with BECTS are limited. Twenty-six children with BECTS (15 males/11 females; 10...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29453776/syndromic-sebaceous-nevus-current-findings
#17
Oumama El Ezzi, Anthony S de Buys Roessingh, Michèle Bigorre, Guillaume Captier
BACKGROUND: Sebaceous nevus is a congenital malformation of the skin that usually occurs on the scalp or face. Syndromic forms do rarely exist with associated cerebral and ocular malformations. The skin lesions are pale at birth and become irregular by puberty. In the adult patient, tumors (usually benign) develop from sebaceous nevus. Their surgical excision during childhood can give a better result in terms of the definitive scar. OBJECTIVES: The aim of this study is to analyze our cases of syndromic sebaceous hamartoma, perform a review of the existing literature, and propose guidelines for the therapeutic plan...
February 16, 2018: International Journal of Dermatology
https://www.readbyqxmd.com/read/29453113/epidemiological-profile-of-epilepsy-in-low-income-populations
#18
REVIEW
Camilo Espinosa-Jovel, Rafael Toledano, Ángel Aledo-Serrano, Irene García-Morales, Antonio Gil-Nagel
Epilepsy is a global disease with an unequal distribution. About 80% of the affected individuals reside in low and middle income countries. The incidence and prevalence of epilepsy in low income populations is higher than in the rest of the world, this is partly explained by some risk factors such as head trauma, perinatal injury and CNS infections, which are more common in poor regions, especially in rural areas. Epilepsy is considered a treatable condition with high rates of therapeutic response. About three fourths of patients achieve control of the disease with the use of antiepileptic drugs, however, despite this benign prognosis, over 75% of patients from low income populations do not receive treatment at all...
February 8, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29449828/understanding-spreading-depression-from-headache-to-sudden-unexpected-death
#19
REVIEW
Olga Cozzolino, Maria Marchese, Francesco Trovato, Enrico Pracucci, Gian Michele Ratto, Maria Gabriella Buzzi, Federico Sicca, Filippo M Santorelli
Spreading depression (SD) is a neurophysiological phenomenon characterized by abrupt changes in intracellular ion gradients and sustained depolarization of neurons. It leads to loss of electrical activity, changes in the synaptic architecture, and an altered vascular response. Although SD is often described as a unique phenomenon with homogeneous characteristics, it may be strongly affected by the particular triggering event and by genetic background. Furthermore, SD may contribute differently to the pathogenesis of widely heterogeneous clinical conditions...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29432985/a-relatively-mild-phenotype-associated-with-mutation-of-scn8a
#20
Irene Bagnasco, Patrizia Dassi, Roberta Blé, Piernanda Vigliano
Mutations in SCN8A gene have been described in relation to infantile onset epilepsy with movement disorders and developmental delay. Recently various authors have reported patients carrying autosomal dominant heterozygous SCN8A mutations and a milder phenotype expression. We discuss the case of a 6-year-old girl with a positive family history for epilepsy, early benign focal epilepsy, well controlled by Carbamazepine, upper limb tremor since birth, ataxia, slight motor delay and normal cognitive development...
February 7, 2018: Seizure: the Journal of the British Epilepsy Association
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