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benign epilepsy

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https://www.readbyqxmd.com/read/28717674/exactly-zero-or-once-a-clinically-helpful-guide-to-assessing-genetic-variants-in-mild-epilepsies
#1
Caitlin A Bennett, Slavé Petrovski, Karen L Oliver, Samuel F Berkovic
OBJECTIVE: To assist the interpretation of genomic data for common epilepsies, we asked whether variants implicated in mild epilepsies in autosomal dominant families are present in the general population. METHODS: We studied 12 genes for the milder epilepsies and identified published variants with strong segregation support (de novo germline mutation or ≥4 affected family members). These variants were checked in the Exome Aggregation Consortium (ExAC), a database of genetic variation in over 60,000 individuals...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28687180/a-patient-with-early-myoclonic-encephalopathy-eme-with-a-de-novo-kcnq2-mutation
#2
Karin Kojima, Kentaro Shirai, Mizuki Kobayashi, Akihiko Miyauchi, Hirotomo Saitsu, Naomichi Matsumoto, Hitoshi Osaka, Takanori Yamagata
BACKGROUND: The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patient with early myoclonic encephalopathy (EME) caused by a KCNQ2 mutation. CASE REPORT: A male infant started to exhibit erratic myoclonus several days after birth and apnea attacks lasting for seconds with desaturation...
July 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/28686619/rare-variants-of-small-effect-size-in-neuronal-excitability-genes-influence-clinical-outcome-in-japanese-cases-of-scn1a-truncation-positive-dravet-syndrome
#3
Michael F Hammer, Atsushi Ishii, Laurel Johnstone, Alexander Tchourbanov, Branden Lau, Ryan Sprissler, Brian Hallmark, Miao Zhang, Jin Zhou, Joseph Watkins, Shinichi Hirose
Dravet syndrome (DS) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, SCN1A. There is considerable variability in expressivity within families, as well as among individuals carrying the same primary mutation, suggesting that clinical outcome is modulated by variants at other genes. To identify modifier gene variants that contribute to clinical outcome, we sequenced the exomes of 22 individuals at both ends of a phenotype distribution (i...
2017: PloS One
https://www.readbyqxmd.com/read/28684952/new-insights-into-postictal-paresis-an-epilepsy-associated-phenomenon-that-may-not-be-as-benign-as-long-thought
#4
COMMENT
Kyle A Lyman, Dane Chetkovich
No abstract text is available yet for this article.
May 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/28665249/improved-operative-efficiency-using-a-real-time-mri-guided-stereotactic-platform-for-laser-amygdalohippocampotomy
#5
Allen L Ho, Eric S Sussman, Arjun V Pendharkar, Scheherazade Le, Alessandra Mantovani, Alaine C Keebaugh, David R Drover, Gerald A Grant, Max Wintermark, Casey H Halpern
OBJECTIVE MR-guided laser interstitial thermal therapy (MRgLITT) is a minimally invasive method for thermal destruction of benign or malignant tissue that has been used for selective amygdalohippocampal ablation for the treatment of temporal lobe epilepsy. The authors report their initial experience adopting a real-time MRI-guided stereotactic platform that allows for completion of the entire procedure in the MRI suite. METHODS Between October 2014 and May 2016, 17 patients with mesial temporal sclerosis were selected by a multidisciplinary epilepsy board to undergo a selective amygdalohippocampal ablation for temporal lobe epilepsy using MRgLITT...
June 30, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28630220/beyond-cervical-lipomas-myoclonus-gait-disorder-and-multisystem-involvement-leading-to-mitochondrial-disease
#6
Roberto López-Blanco, Ana Rojo-Sebastián, Maria Henedina Torregrosa-Martínez, Alberto Blazquez
Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m...
June 19, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28623837/abnormal-asymmetry-in-benign-epilepsy-with-unilateral-and-bilateral-centrotemporal-spikes-a-combined-fmri-and-dti-study
#7
Weifang Cao, Yaodan Zhang, Changyue Hou, Fei Yang, Jinnan Gong, Sisi Jiang, Yue Huang, Ruhui Xiao, Cheng Luo, Xiaoming Wang, Dezhong Yao
Benign epilepsy with centrotemporal spikes (BECTS) is the most common idiopathic focal childhood epilepsy associated with either unilateral or bilateral epileptic discharge. Asymmetry as an important characteristic of the human brain is beneficial for brain functions. However, little is known about on asymmetry of BECTS patients with different epileptic spikes pattern. In the present study, we investigated functional and structural asymmetries in unilateral spikes BECTS (U_BECTS) patients and bilateral spikes BECTS (B_BECTS) patients using resting state functional magnetic resonance images and diffusion tensor imaging...
June 8, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28622557/the-executive-profile-of-children-with-benign-epilepsy-of-childhood-with-centrotemporal-spikes-and-temporal-lobe-epilepsy
#8
Ellen M Lima, Patricia Rzezak, Catarina A Guimarães, Maria A Montenegro, Marilisa M Guerreiro, Kette D Valente
RATIONALE: Benign Epilepsy of Childhood with Centrotemporal Spikes (BECTS) and temporal lobe epilepsy (TLE) represent two distinct models of focal epilepsy of childhood. In both, there is evidence of executive dysfunction. The purpose of the present study was to identify particular deficits in the executive function that would distinguish children with BECTS from children with TLE. METHODS: We prospectively evaluated 19 consecutive children and adolescents with TLE with hippocampal sclerosis (HS) (57...
June 13, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28602030/variable-expressivity-of-a-likely-pathogenic-variant-in-kcnq2-in-a-three-generation-pedigree-presenting-with-intellectual-disability-with-childhood-onset-seizures
#9
Stacy Hewson, Klajdi Puka, Saadet Mercimek-Mahmutoglu
KCNQ2 has been reported as a frequent cause of autosomal dominant benign familial neonatal seizures. De novo likely pathogenic variants in KCNQ2 have been described in neonatal or early infantile onset epileptic encephalopathy patients. Here, we report a three-generation family with six affected patients with a novel likely pathogenic variant (c.628C>T; p.Arg210Cys) in KCNQ2. Four family members, three adults and a child, presented with a childhood seizure onset with variability in the severity of seizures and response to treatment, intellectual disability (ID) as well as behavioral problems...
June 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28593865/the-semiology-of-benign-focal-epilepsy-with-affective-symptoms
#10
Fábio A Nascimento, Márcio A Sotero de Menezes, Cristiane A Simao, Bruno T Takeshita, Samanta F Blattes da Rocha, Pedro A Kowacs
Benign focal epilepsy with affective symptoms (BFEAS) is a rare childhood epilepsy syndrome essentially characterized by "epileptic attacks with affective symptoms of a terrifying type". Since the original description, approximately 50 cases have been reported. To our knowledge, however, none of the studies included video-EEG data. Herein, we detail the electroclinical features of a neurodevelopmentally normal 9-year-old boy with epilepsy since the age of 2 years. His seizure semiology essentially consisted of nocturnal focal seizures featuring abrupt fear and autonomic phenomena (such as excessive sweating, repeated swallowing, and coughing), associated with impaired consciousness...
June 7, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28590300/18f-fdopa-pet-imaging-in-prolactinoma
#11
Merwan Ginet, Thomas Cuny, Emmanuelle Schmitt, Pierre-Yves Marie, Antoine Verger
Pituitary macroadenoma constitutes a frequently misdiagnosed benign tumor. We report herein a case where such macroadenoma, a prolactinoma, was incidentally discovered in a 63-year-old man who had been referred to F-FDG PET and F-FDOPA PET imaging for a pharmacoresistant epilepsy. An increased uptake was documented for both radiotracers within the sellar region, although with a much higher contrast for F-FDOPA than for F-FDG. This case presents an increased uptake documented within a prolactinoma owing to the high contrast and image quality provided by F-FDOPA PET...
August 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28580160/oxcarbazepine-induced-stevens-johnson-syndrome-a-pediatric-case-report
#12
Burçin Beken, Ceren Can, Aysegül Örencik, Nuray Can, Mehtap Yazıcıoğlu
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis are two rare but life-threatening diseases characterized by detachment of epidermis, bullous skin lesions and mucous membrane erosions. Anti-epileptic drugs are highly suspected to be the causative agents. Although carbamazepine (CBZ) is the most associated anti-epileptic drug, oxcarbazepine (OXC), which is a monohydrated derivative of CBZ, is proposed to be safer because of the different metabolism of the two drugs. Herein, we report a case of SJS induced by oxcarbazepine...
June 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28575760/benign-childhood-epilepsy-with-centrotemporal-spikes-bects-and-developmental-co-ordination-disorder
#13
Amanda Kirby, Natalie Williams, Loes Koelewijn, Lisa M Brindley, Suresh D Muthukumaraswamy, Johann Te Water Naudé, Marie Thomas, Frances Gibbon, Krish D Singh, Khalid Hamandi
BACKGROUND: Benign epilepsy with centro-temporal spikes (BECTS) is a common childhood epilepsy syndrome also known as Rolandic Epilepsy (RE). Neurocognitive phenotypes have been described with greater focus on attention, reading and language domains but there have been far fewer studies focusing on motor functioning. This study included measures of motor, language and cognition in order to investigate the range, degree and pattern of difficulties associated with BECTS in a case series of children, but with a particular emphasis on motor skills...
May 30, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28566192/association-of-a-synonymous-scn1b-variant-affecting-splicing-efficiency-with-benign-familial-infantile-epilepsy-bfie
#14
Sunay Usluer, Melek Aslı Kayserili, Aslı Gündoğdu Eken, Uluc Yiş, Costin Leu, Janine Altmüller, Holger Thiele, Peter Nürnberg, Thomas Sander, S Hande Çağlayan
Benign Familial Infantile Epilepsy (BFIE) is clinically characterized by clusters of brief partial seizures progressing to secondarily generalized seizures with onset at the age of 3-7 months and with favorable outcome. PRRT2 mutations are the most common cause of BFIE, and found in about 80% of BFIE families. In this study, we analyzed a large multiplex BFIE family by linkage and whole exome sequencing (WES) analyses. Genome-wide linkage analysis revealed significant evidence for linkage in the chromosomal region 19p12-q13 (LOD score 3...
May 13, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28535638/-application-of-long-term-video-electroencephalogram-and-resting-state-functional-magnetic-resonance-imaging-in-detection-of-cognition-in-patients-with-benign-epilepsy-of-childhood-with-centrotemporal-spikes
#15
X X Yan, Q Yu, Y T Gao, L T Li, D H Yu, Y Chen, X J Yao, W D Yang, Z J Chen, J Z Yin, Y An, K Tan
Objective: To study the relationship between the changes of brain network and cognition in patients with benign epilepsy of childhood with centrotemporal spikes (BECTS) by using long term video electroencephalogram (VEEG) and resting-state functional magnetic resonance imaging (RS-fMRI) technology. Methods: Eleven patients with right-handed were recruited (from April 2015 to September 2016) from epilepsy specialist outpatients and functional department of neurosurgery of Tianjin Medical University General Hospital...
May 23, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28533141/common-and-distinctive-patterns-of-cognitive-dysfunction-in-children-with-benign-epilepsy-syndromes
#16
Dazhi Cheng, Xiuxian Yan, Zhijie Gao, Keming Xu, Xinlin Zhou, Qian Chen
BACKGROUND: Childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes are the most common forms of benign epilepsy syndromes. Although cognitive dysfunctions occur in children with both childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes, the similarity between their patterns of underlying cognitive impairments is not well understood. To describe these patterns, we examined multiple cognitive functions in children with childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes...
July 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28518218/comparison-and-optimization-of-in-silico-algorithms-for-predicting-the-pathogenicity-of-sodium-channel-variants-in-epilepsy
#17
Katherine D Holland, Thomas M Bouley, Paul S Horn
OBJECTIVE: Variants in neuronal voltage-gated sodium channel α-subunits genes SCN1A, SCN2A, and SCN8A are common in early onset epileptic encephalopathies and other autosomal dominant childhood epilepsy syndromes. However, in clinical practice, missense variants are often classified as variants of uncertain significance when missense variants are identified but heritability cannot be determined. Genetic testing reports often include results of computational tests to estimate pathogenicity and the frequency of that variant in population-based databases...
July 2017: Epilepsia
https://www.readbyqxmd.com/read/28506485/surgery-for-dysembryoplastic-neuroepithelial-tumors-and-gangliogliomas-in-eloquent-areas-functional-results-and-seizure-control
#18
B Devaux, F Chassoux, E Landré, B Turak, A Laurent, M Zanello, C Mellerio, P Varlet
INTRODUCTION: Dysembryoplastic neuroepithelial tumors and gangliogliomas are developmental glioneuronal tumors usually revealed by partial epilepsy. High epileptogenicity, childhood epilepsy onset, drug-resistance, temporal location, and seizure freedom after complete resection are common characteristics of both tumors. We report the specificity of surgical management, functional results and seizure outcome in cases of a tumor location in eloquent areas. METHODS: Among 150 patients (88 males, 3-55 years) operated on for refractory epilepsy due to a glioneuronal tumor (1990-2015), 30 (20%, dysembryoplastic neuroepithelial tumors=21; gangliogliomas=9) had a tumor located in an eloquent cortex (sensory-motor, insular or language areas)...
May 12, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28503627/two-novel-kcnq2-mutations-in-2-families-with-benign-familial-neonatal-convulsions
#19
Ghalia Al Yazidi, Michael I Shevell, Myriam Srour
Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals have inherited causal mutations in KCNQ2, which encodes for the potassium voltage-gated channel subfamily Q, member 2. Mutations in KCNQ2 are also associated with a severe neonatal encephalopathy phenotype associated with poor seizure control and neurodevelopmental deficits...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/28503077/an-unusual-association-of-headache-epilepsy-and-late-onset-kleist-s-pseudodepression-syndrome-in-frontal-lobe-cavernoma-of-the-cerebral-left-hemisphere
#20
Domenico Chirchiglia, Attilio Della Torre, Domenico Murrone, Pasquale Chirchiglia, Rosa Marotta
Cerebral cavernous angioma or cavernoma is a benign vascular malformation, usually asymptomatic. It is infrequent and often its discovery is incidental, a so-called incidentaloma. However, these lesions can be symptomatic, causing headaches, epilepsy, cerebral hemorrhage and other neurological signs depending on the brain area involved. Frontal localization is responsible for psychiatric disorders, particularly the prefrontal region, leading to prefrontal syndrome, a condition common in all frontal lobe tumors...
2017: International Medical Case Reports Journal
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