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https://www.readbyqxmd.com/read/28815953/epilepsy-in-fragile-x-syndrome-mimicking-panayiotopoulos-syndrome-description-of-three-patients
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/28801973/cognitive-functioning-in-children-with-self-limited-epilepsy-with-centrotemporal-spikes-a-systematic-review-and-meta-analysis
#5
REVIEW
Steven Wickens, Stephen C Bowden, Wendyl D'Souza
OBJECTIVE: It is now well appreciated that benign epilepsy with centrotemporal spikes (BECTS, or more recently, ECTS) is associated with a range of cognitive and behavioral disturbances. Despite our improved understanding of cognitive functioning in ECTS, there have been to date no efforts to quantitatively synthesize the available literature within a comprehensive cognitive framework. METHODS: The present systematic review and meta-analysis was conducted according to PRISMA guidelines...
August 12, 2017: Epilepsia
https://www.readbyqxmd.com/read/28800038/subclinical-rhythmic-eeg-discharge-of-adult-sreda-in-a-child-with-generalized-epilepsy-and-literature-review-of-sreda-in-children
#6
Marcie Goeden, Lalit R Bansal
Subclinical rhythmic discharges of adult (SREDA) is a rare benign EEG variant in adults and is of unknown clinical significance. Its occurrence in children is extremely rare. In review of the literature, it has been described in only four children. We present a case of a 10-year-old female with generalized idiopathic childhood absence epilepsy who is noted to have SREDA in three subsequent EEGs performed across a 25-month span. She had no clinical change with these discharges and it was believed to be a benign variant...
August 9, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28794986/west-syndrome-in-three-patients-with-brain-injury-and-a-benign-course
#7
Angelo Russo, Michael Duchowny, Antonella Boni, Melania Giannotta, Melissa Filippini, Giuseppe Gobbi
Infants with West Syndrome and underlying structural pathology typically experience persistent symptomatic focal seizures and intellectual disability. We performed a retrospective case review of 84 patients with West Syndrome evaluated at one institution between 1990 and 2013. From this group we identified three patients with West syndrome and congenital hemiplegia who later developed genetic epilepsy features and had normal intellectual development. This outcome is highly unusual and raises important questions about the relationship and possible influence of genetic epilepsy in patients with pre-existent West Syndrome and brain injury...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28794409/annotating-pathogenic-non-coding-variants-in-genic-regions
#8
Sahar Gelfman, Quanli Wang, K Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matt Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L Heinzen, Michael J Boland, Slavé Petrovski, David B Goldstein
Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively capture pathogenic non-coding variants in genic regions, resulting in overlooking synonymous and intronic variants when searching for disease risk. Here we present the Transcript-inferred Pathogenicity (TraP) score, which uses sequence context alterations to reliably identify non-coding variation that causes disease. High TraP scores single out extremely rare variants with lower minor allele frequencies than missense variants...
August 9, 2017: Nature Communications
https://www.readbyqxmd.com/read/28762475/behavioral-and-fmri-responses-to-fearful-faces-are-altered-in-benign-childhood-epilepsy-with-centrotemporal-spikes-bcects
#9
Carolina Ciumas, Agathe Laurent, Mani Saignavongs, Faustine Ilski, Julitta de Bellescize, Eleni Panagiotakaki, Karine Ostrowsky-Coste, Alexis Arzimanoglou, Vania Herbillon, Danielle Ibarrola, Philippe Ryvlin
OBJECTIVE: We hypothesized that children with benign childhood epilepsy with centrotemporal spikes (BCECTS) might have altered social cognitive skills and underlying neural networks. METHODS: We studied 13 patients with BCECTS and 11 age-matched controls using event-related functional magnetic resonance imaging (fMRI) with an emotional discrimination task consisting of viewing happy, fearful, scrambled, and neutral faces. Behavioral performance measured during the task was correlated with clinical variables and behavioral ratings...
July 31, 2017: Epilepsia
https://www.readbyqxmd.com/read/28734769/influence-of-epileptic-activity-during-sleep-on-cognitive-performance-in-benign-childhood-epilepsy-with-centrotemporal-spikes
#10
Andreea Nissenkorn, Adi Pappo, Yael Feldmann, Gali Heimer, Omer Bar-Yosef, Michal Tzadok, Orli Polack, Ayelet Bord, Miriam Levav, Bruria Ben-Zeev
BACKGROUND: Benign childhood epilepsy with centrotemporal spikes is benign childhood epilepsy, presenting between 4 and 10 years of age, characterized by typical clinical and EEG findings. Despite excellent prognosis, there are reports of mild cognitive, language, fine motor and behavioral difficulties. In its atypical form - electrical status epilepticus during slow wave sleep, continuous epileptiform activity during sleep lead to severe neurocognitive deterioration. Our objective was to investigate the influence of abundant sleep epileptiform activity, not fulfilling the criteria for electrical status epilepticus during Slow Wave Sleep, discovered randomly in children without overt intellectual impairment...
July 11, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28733343/profile-of-neonatal-epilepsies-characteristics-of-a-prospective-us-cohort
#11
Renée A Shellhaas, Courtney J Wusthoff, Tammy N Tsuchida, Hannah C Glass, Catherine J Chu, Shavonne L Massey, Janet S Soul, Natrujee Wiwattanadittakun, Nicholas S Abend, Maria Roberta Cilio
OBJECTIVE: Although individual neonatal epilepsy syndromes are rare, as a group they represent a sizable subgroup of neonatal seizure etiologies. We evaluated the profile of neonatal epilepsies in a prospective cohort of newborns with seizures. METHODS: Consecutive newborns with seizures were enrolled in the Neonatal Seizure Registry (an association of 7 US children's hospitals). Treatment and diagnostic testing were at the clinicians' discretion. Neonates with seizures related to epileptic encephalopathies (without structural brain abnormalities), brain malformations, or benign familial epilepsies were included in this analysis...
July 21, 2017: Neurology
https://www.readbyqxmd.com/read/28728046/advanced-morphological-neuroimaging-study-in-lateral-temporal-lobe-epilepsy-a-multicentric-study
#12
Roberta Vasta, Alessia Sarica, Francesca Bisulli, Giancarlo Di Gennaro, Alfredo D'Aniello, Jacopo C Difrancesco, Laura Canafoglia, Marina Casazza, Silvana Franceschetti, Carlotta Stipa, Paolo Tinuper, Laura Mumoli, Antonio Gambardella, Angelo Labate
Lateral temporal lobe epilepsy (lTLE) is a rare condition characterized by auditory auras or receptive aphasia, negative MRI, and relatively benign evolution. With the low number of cases in the world, our objective was to analyze a cohort of sporadic cases with lTLE (slTLE), in order to investigate possible cerebral morphological alterations. Forty patients with lTLE (34.93±12.08years of age) and 38 healthy controls (CTRL, 34.55±9.08years of age) were enrolled from four tertiary Italian epilepsy centers, which provided brain MRI T1-weighted images following a standard protocol for patients with epilepsy...
July 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28717674/exactly-zero-or-once-a-clinically-helpful-guide-to-assessing-genetic-variants-in-mild-epilepsies
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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