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Epilepsy AND children

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https://www.readbyqxmd.com/read/28334963/three-and-four-dimensional-mapping-of-speech-and-language-in-patients-with-epilepsy
#1
Yasuo Nakai, Jeong-Won Jeong, Erik C Brown, Robert Rothermel, Katsuaki Kojima, Toshimune Kambara, Aashit Shah, Sandeep Mittal, Sandeep Sood, Eishi Asano
We have provided 3-D and 4D mapping of speech and language function based upon the results of direct cortical stimulation and event-related modulation of electrocorticography signals. Patients estimated to have right-hemispheric language dominance were excluded. Thus, 100 patients who underwent two-stage epilepsy surgery with chronic electrocorticography recording were studied. An older group consisted of 84 patients at least 10 years of age (7367 artefact-free non-epileptic electrodes), whereas a younger group included 16 children younger than age 10 (1438 electrodes)...
March 16, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28332798/discontinuation-of-antiepileptic-drugs-in-seizure-free-patients-when-and-how
#2
Morten I Lossius, Kristin Å Alfstad, Kari M Aaberg, Karl O Nakken
In seizure-free patients with epilepsy, the question of whether, and if so when, it is acceptable to withdraw treatment may be difficult to answer. A thorough risk-benefit assessment should be undertaken with the patient and next of kin, during which the consequences of a relapse must be weighed against the disadvantages of continued administration of the drug. As a main rule, adult patients should have been seizure-free for at least two years before discontinuation is considered. In children with epilepsy with a known good prognosis, discontinuation may be considered even earlier...
March 2017: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
https://www.readbyqxmd.com/read/28330972/fatal-cerebral-edema-with-status-epilepticus-in-children-with-dravet-syndrome-report-of-5-cases
#3
Kenneth A Myers, Jacinta M McMahon, Simone A Mandelstam, Mark T Mackay, Renate M Kalnins, Richard J Leventer, Ingrid E Scheffer
Dravet syndrome (DS) is a well-recognized developmental and epileptic encephalopathy associated with SCN1A mutations and 15% mortality by 20 years. Although over half of cases succumb to sudden unexpected death in epilepsy, the cause of death in the remainder is poorly defined. We describe the clinical, radiologic, and pathologic characteristics of a cohort of children with DS and SCN1A mutations who developed fatal cerebral edema causing mass effect after fever-associated status epilepticus. Cases were identified from a review of children with DS enrolled in the Epilepsy Genetics Research Program at The University of Melbourne, Austin Health, who died after fever-associated status epilepticus...
March 22, 2017: Pediatrics
https://www.readbyqxmd.com/read/28329656/pediatric-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-in-the-us
#4
Derek Y Hsu
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening blistering disorders. Few studies have addressed SJS/TEN in children. We sought to determine risk factors, comorbidities, inpatient burden and mortality in US children with SJS, SJS-TEN and TEN. We analyzed data from the 2009-2012 Nationwide Inpatient Sample (NIS), containing a representative 20% sample of all hospitalizations in the US. SJS, SJS-TEN and TEN were identified by a validated algorithm using ICD-9-CM codes...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28328131/recessive-mutations-in-slc35a3-cause-early-onset-epileptic-encephalopathy-with-skeletal-defects
#5
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter D Jonghe, Ingo Helbig, Domenico Garozzo, Renzo Guerrini
We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328117/noonan-syndrome-ptpn11-mutations-and-brain-tumors-a-clinical-report-and-review-of-the-literature
#6
Aurore Siegfried, Claude Cances, Marie Denuelle, Najat Loukh, Maïté Tauber, Hélène Cavé, Marie-Bernadette Delisle
Noonan syndrome (NS), an autosomal dominant disorder, is characterized by short stature, congenital heart defects, developmental delay, and facial dysmorphism. PTPN11 mutations are the most common cause of NS. PTPN11 encodes a non-receptor protein tyrosine phosphatase, SHP2. Hematopoietic malignancies and solid tumors are associated with NS. Among solid tumors, brain tumors have been described in children and young adults but remain rather rare. We report a 16-year-old boy with PTPN11-related NS who, at the age of 12, was incidentally found to have a left temporal lobe brain tumor and a cystic lesion in the right thalamus...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327842/-characteristics-of-patients-with-cerebral-palsy-seen-in-neuropediatric-external-consultation-in-a-peruvian-hospital
#7
Judith R Vila, Ivan O Espinoza, Daniel Guillén, Frine Samalvides
The aim of this study was to describe the neurological consultation and baseline characteristics of children with cerebral palsy (CP). The clinical records of children with CP attending an external consultation of the Neuropediatric department of Hospital Nacional Cayetano Heredia between 2011 and 2012 were assessed in this retrospective descriptive study. A total of 81 children were included: 53.1% were boys. Spastic CP was the most frequent (72.8%), hypoxic-isquemic encephalopathy (28.1%) and cerebral malformations (28...
October 2016: Revista Peruana de Medicina Experimental y Salud Pública
https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#8
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a result, we found two deleterious de novo mutations in DYNC1H1 and RTP1 in two trios. Expression profile analysis showed that DYNC1H1 and RTP1 are expressed in almost all brain regions and developmental stages...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28322026/objective-3d-surface-evaluation-of-intracranial-electrophysiologic-correlates-of-cerebral-glucose-metabolic-abnormalities-in-children-with-focal-epilepsy
#9
Jeong-Won Jeong, Eishi Asano, Vinod Kumar Pilli, Yasuo Nakai, Harry T Chugani, Csaba Juhász
To determine the spatial relationship between 2-deoxy-2[(18) F]fluoro-D-glucose (FDG) metabolic and intracranial electrophysiological abnormalities in children undergoing two-stage epilepsy surgery, statistical parametric mapping (SPM) was used to correlate hypo- and hypermetabolic cortical regions with ictal and interictal electrocorticography (ECoG) changes mapped onto the brain surface. Preoperative FDG-PET scans of 37 children with intractable epilepsy (31 with non-localizing MRI) were compared with age-matched pseudo-normal pediatric control PET data...
March 21, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28318056/cutaneous-and-systemic-findings-in-mosaic-neurofibromatosis-type-1
#10
Igor Vázquez-Osorio, Anna Duat-Rodríguez, Francisco Javier García-Martínez, Antonio Torrelo, Lucero Noguera-Morel, Angela Hernández-Martín
BACKGROUND/OBJECTIVES: Mosaic neurofibromatosis type 1 (MNF1) is a variant of neurofibromatosis type 1 (NF1) in which clinical manifestations are limited to one or several body segments. The objective was to characterize the cutaneous features and associated systemic findings in a cohort of children with MNF1. METHODS: We performed a retrospective study of 40 children diagnosed with MNF1 at the Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain, from January 1, 1986, to October 31, 2015...
March 20, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28316319/epileptic-spasms-in-paediatric-post-traumatic-epilepsy-at-a-tertiary-referral-centre
#11
Jun T Park, Harry T Chugani
To recognize epileptic spasms (ES) as a seizure type after traumatic brain injury (TBI), accidental or non-accidental, in infants and children. In the process, we aim to gain some insight into the mechanisms of epileptogenesis in ES. A retrospective electronic chart review was performed at the Children's Hospital of Michigan from 2002 to 2012. Electronic charts of 321 patients were reviewed for evidence of post-traumatic epilepsy. Various clinical variables were collected including age at TBI, mechanism of trauma, severity of brain injury, electroencephalography/neuroimaging data, and seizure semiology...
March 17, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28315806/paroxysmal-nonepileptic-events-in-children-with-epilepsy
#12
Yuji Ito, Hiroyuki Kidokoro, Tamiko Negoro, Masaharu Tanaka, Yu Okai, Yoko Sakaguchi, Chikako Ogawa, Tomoya Takeuchi, Atsuko Ohno, Hiroyuki Yamamoto, Tomohiko Nakata, Satoshi Maesawa, Kazuyoshi Watanabe, Yoshiyuki Takahashi, Jun Natsume
OBJECTIVE: The aim of this study was to clarify the characteristics of paroxysmal nonepileptic events (PNEs) suspected as being epileptic seizures by families of children with epilepsy. METHODS: The video-EEG (vEEG) recordings of habitual paroxysmal events in children with epilepsy at Nagoya University Hospital between October 2006 and January 2016 were reviewed. Based on the doctor's suspicion before the vEEG, the PNEs were divided into two groups that included PNEs suspected as epileptic seizures and PNEs suspected as PNEs...
February 27, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28302757/alteration-of-monoamine-receptor-activity-and-glucose-metabolism-in-paediatric-patients-with-anticonvulsant-induced-cognitive-impairment
#13
Yuankai Zhu, Jianhua Feng, Jianfeng Ji, Haifeng Hou, Lin Chen, Shuang Wu, Qing Liu, Qiong Yao, Peizhen Du, Kai Zhang, Qing Chen, Zexin Chen, Hong Zhang, Mei Tian
A landmark study from the Institute of Medicine (IOM) reported that the assessment of cognitive difficulties in children with epilepsy is timely and imperative. Anticonvulsant-induced cognitive impairment could influence the quality of life more than seizure itself in patients. Although monoaminergic system is involved in the regulation of cognitive process, its role in anticonvulsant-induced cognitive impairment remains unclear. Methods: To explore in vivo monoamine receptor binding activity in patients with anticonvulsant-induced cognitive impairment, each patient had PET imaging with both monoamine receptor binding agent, (11)C-N-methylspiperone ((11)C-NMSP), and glucose metabolic agent, (18)F-fluorodeoxyglucose ((18)F-FDG)...
March 16, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28302192/-surgery-for-pediatric-intractable-epilepsy-due-to-posterior-quadrantic-cortical-dysplasia
#14
Qing-Zhu Liu, Li-Xin Cai, Xiao-Yan Liu, Yu-Wu Jiang, Shuang Wang, Tao-Yun Ji, Wen Wang, Wei-Ke Cheng, Ruo-Fan Wang
OBJECTIVE: To investigate the clinical features and surgical strategy for pediatric intractable epilepsy due to posterior quadrantic cortical dysplasia and to assess the surgical outcomes. METHODS: The clinical features and preoperative evaluation results of 14 children with intractable epilepsy due to posterior quadrantic cortical dysplasia were retrospectively analyzed. The localization values of video-electroencephalography and intraoperative monitoring and the indications, advantages and disadvantages of temporoparietooccipital disconnection were evaluated...
March 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28301881/quality-of-life-and-fitness-in-children-and-adolescents-with-epilepsy-epifit
#15
Markus Rauchenzauner, Claudia Hagn, Romana Walch, Matthias Baumann, Edda Haberlandt, Martin Frühwirth, Kevin Rostasy
Objective The objective of this study was to evaluate the correlation between fitness and health-related quality of life (HRQoL) in children with idiopathic epilepsy compared with a healthy matched control group. Methods In this study, 107 children conducted a 6-minute walk test, anthropometric parameters were measured, and HRQoL was assessed using a standardized questionnaire (KINDL-R). Children were divided into two groups: (1) the patient group (n = 48) and (2) the healthy control group (n = 59)...
March 16, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28300031/epileptic-spasms-in-congenital-disorders-of-glycosylation
#16
Andreia G Pereira, Nadia Bahi-Buisson, Christine Barnerias, Nathalie Boddaert, Rima Nabbout, Pascale de Lonlay, Anna Kaminska, Monika Eisermann
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation of proteins and lipids. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare. We describe, retrospectively, the electroclinical features in five children with CDG syndrome and epileptic spasms. Epileptic spasms were observed in patients with CDG Ik, Ic, Ix, and Ip subtypes, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months...
March 14, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28298846/menkes-disease-and-response-to-copper-histidine-an-indian-case-series
#17
Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda
BACKGROUND: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28295824/wavelet-entropy-of-bold-time-series-an-application-to-rolandic-epilepsy
#18
Lalit Gupta, Jacobus F A Jansen, Paul A M Hofman, René M H Besseling, Anton J A de Louw, Albert P Aldenkamp, Walter H Backes
PURPOSE: To assess the wavelet entropy for the characterization of intrinsic aberrant temporal irregularities in the time series of resting-state blood-oxygen-level-dependent (BOLD) signal fluctuations. Further, to evaluate the temporal irregularities (disorder/order) on a voxel-by-voxel basis in the brains of children with Rolandic epilepsy. MATERIALS AND METHODS: The BOLD time series was decomposed using the discrete wavelet transform and the wavelet entropy was calculated...
March 11, 2017: Journal of Magnetic Resonance Imaging: JMRI
https://www.readbyqxmd.com/read/28295155/antecedents-and-neuroimaging-patterns-in-cerebral-palsy-with-epilepsy-and-cognitive-impairment-a-population-based-study-in-children-born-at-term
#19
Kristina Ahlin, Bo Jacobsson, Staffan Nilsson, Kate Himmelmann
INTRODUCTION: Antecedents of accompanying impairments in cerebral palsy (CP) and their relation to neuroimaging patterns need to be explored. MATERIAL AND METHODS: A population-based study of 309 children with CP born at term in 1983-1994. Pre-, intra- and postpartum variables previously studied as antecedents of CP type and motor severity were analysed in children with CP and cognitive impairment and/or epilepsy, and in children with CP without these accompanying impairments...
March 12, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28293314/clinical-spectrum-of-cerebral-palsy-and-associated-disability-in-south-egypt-a-local-survey-study
#20
Osama Abas, Faten Abdelaziem, Ayman Kilany
BACKGROUND: Cerebral palsy is the most common cause of motor disability in children with a prevalence of 2-10/1,000 live births in the developing areas. AIM: The epidemiology, clinical picture, and associated comorbidities in CP have been extensively studied in high-resource countries, but in low-resource areas, including Africa, those studies are still lacking. METHODS: Cerebral palsy cases were prospectively recruited from every physiotherapy centre in Bani-Mazar city, Egypt, in a cross-sectional study from May 2015 to November 2015...
March 15, 2017: Open Access Macedonian Journal of Medical Sciences
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