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Salvatore Grosso, Maria Alessandra Carluccio, Elena Cardaioli, Alfonso Cerase, Alessandro Malandrini, Chiara Romano, Antonio Federico, Maria Teresa Dotti
BACKGROUND: Complex I deficiency is the most common energy generation disorder which may clinically present at any age with a wide spectrum of symptoms and signs. The T10158C mutation ND3 gene is rare and occurs in patients showing an early rapid neurological deterioration invariably leading to death after a few months. CASE PRESENTATION: We report a 9year-old boy with a mtDNA T10158C mutation showing a mild MELAS-like phenotype and brain MRI features congruent with both MELAS and Leigh syndrome...
October 11, 2016: Brain & Development
Michael Sweeney, Matthew Sweney, M Mateo Paz Soldán, Stacey L Clardy
BACKGROUND: Opsoclonus-myoclonus syndrome is a rare clinical condition that has been associated with neuroblastoma. There are few reported cases of the presence of ANNA-1/anti-Hu antibodies in children with neuroblastoma and opsoclonus-myoclonus, all in children aged less than 3 years. METHODS: We report the new onset of focal seizures without alteration of consciousness and opsoclonus-myoclonus in an 11-year-old girl with ANNA-1/anti-Hu positivity and a paraspinal ganglioneuroblastoma...
September 2, 2016: Pediatric Neurology
Yudan Lv, Zan Wang, Fengna Chu, Chang Liu, Hongmei Meng
Epilepsia partialis continua (EPC) is a particular type of epilepsy which is distinguished from "common epilepsy" by its characteristic semiological features. However, unusual manifestations should be described in order to give awareness at clinical diagnosis. In this case report we describe a rare EPC case not previously reported, in which left shoulder joint-trunk-hip joint jerk was present for 1 week. Abnormal electroencephalogram and cerebrospinal fluid results supported a diagnosis of viral encephalitis...
2016: Neuropsychiatric Disease and Treatment
Marieke Chamberon, Corinne Catale, Bernadette Kerrouche, Hanna Touré, Anne Laurent-Vannier, Dominique Brugel, Emmanuelle Pineau-Chardon, Aude Mariller, Ouarda Benkhaled, Virginie Kieffer, Miriam Beauchamp, Mathilde Chevignard
OBJECTIVE: Childhood acquired brain injury (ABI) is the leading cause of acquired disability in childhood, with significant consequences on independence, academic achievement and participation. The "Child and Adolescent Scale of Participation" (CASP; Bedell 2004) has been specifically developed to assess participation following childhood ABI. The aim of this study was to examine the psychometric properties of the French version of the Child and Adolescent Scale of Participation. MATERIAL/PATIENTS AND METHODS: Cross-sectional, monocentric study...
September 2016: Annals of Physical and Rehabilitation Medicine
Chikako Kaneko, Norshalena Shakespear, Mario Tuchiya, Jin Kubo, Teiji Yamamoto, Soichi Katayama, Yukitoshi Takahashi
Five consecutive cases of anti-NMDA-receptor encephalitis that we encountered were marked by a rapidly fluctuating level of consciousness associated with psychotic and delirious mental states. Opisthotonus, catatonia, and rhythmic and non-rhythmic involuntary movements of the mouth and jaw were also characteristic features of these particular cases. Serious and potentially fatal problems included epilepsia partialis continua, partial and generalized seizures, and respiratory depression, resembling the symptoms of encephalitis lethargica...
September 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
Angela M Malek, Dulaney A Wilson, Gabriel U Martz, Braxton B Wannamaker, Janelle L Wagner, Gigi Smith, Jonathan C Edwards, Anbesaw W Selassie
PURPOSE: Incidence of status epilepticus (SE) ranges from 6.8 to 41.0 per 100,000 population. Although SE is associated with significant morbidity and mortality, the temporal relationship between SE, epilepsy, and mortality is less clear. The risk of all-cause mortality following SE with and without prior epilepsy was investigated. METHOD: This study identified hospitalizations and emergency department visits for persons with SE and persons with epilepsy between 2000 and 2013...
September 3, 2016: Seizure: the Journal of the British Epilepsy Association
Fushun Wang, Xiaowei Wang, Lee A Shapiro, Maria L Cotrina, Weimin Liu, Ernest W Wang, Simeng Gu, Wei Wang, Xiaosheng He, Maiken Nedergaard, Jason H Huang
Traumatic brain injury (TBI) is not only a leading cause for morbidity and mortality in young adults (Bruns and Hauser, Epilepsia 44(Suppl 10):210, 2003), but also a leading cause of seizures. Understanding the seizure-inducing mechanisms of TBI is of the utmost importance, because these seizures are often resistant to traditional first- and second-line anti-seizure treatments. The early post-traumatic seizures, in turn, are a contributing factor to ongoing neuropathology, and it is critically important to control these seizures...
September 1, 2016: Brain Structure & Function
Zohreh Ghotbeddin, Mahyar Janahmadi, Ali Yadollahpour
Epilepsy affects about 1-2 % of world population as a chronic neurological disease that is manifested by repeated and consecutive seizures (Grone and Baraban, Nat Neurosci 18(3):339-343, 2015). There is no definitive therapy for epilepsy and antiepileptic drugs cannot offer a permanent and definitive cure for epilepsy, and most epileptic patients become drug resistant (Sasa, J Pharmacol Sci 100(5):487-494, 2006). Surgery and removal of the epileptic focus is a substitute method for treating drug-resistant patients and epilepsy surgery of either side of the brain improves seizure control...
August 26, 2016: Neurological Sciences
David T Miller
No abstract text is available yet for this article.
September 2016: Epilepsia
Astrid Nehlig, Michael Sperling, Gary Mathern
No abstract text is available yet for this article.
September 2016: Epilepsia
Astrid Nehlig, Michael Sperling, Gary Mathern
No abstract text is available yet for this article.
September 2016: Epilepsia
Michael Benzaquen, Dan Lebowitz, Pauline Belenotti, Jean-Marc Durand, Jacques Serratrice
BACKGROUND: Mycoplasma pneumoniae is a bacterium responsible for 15 to 40 % of acute community-acquired pneumonia in children and 20 % of adult cases. Several extrapulmonary manifestations have been reported. We report a rare case of an adult patient suffering from pneumonia associated with an acute pancreatitis in the setting of Mycoplasma pneumoniae infection. CASE PRESENTATION: A 28-year-old Caucasian woman was referred for anorexia lasting for 1 week. Her past medical history was notable for congenital hydrocephalus with consecutive ventriculo-peritoneal shunt, epilepsia and paraparesis...
2016: BMC Research Notes
Brian Appavu, Natalie Guido-Estrada, Kristin Lindstrom, Theresa Grebe, John F Kerrigan, Matthew Troester
TBC1D24 is a newly recognized gene in which variations lead to variable clinical phenotypes including drug-resistant epilepsy. We report four patients with novel variants of TBC1D24 demonstrating drug-resistant focal epilepsy, developmental delays, and head growth deceleration. All patients had seizure semiologies consisting of prolonged, unilateral, focal clonic activity of the arm, leg or face, in addition to generalized clonic or myoclonic seizures. Ictal EEG characteristics included epilepsia partialis continua, epilepsy of infancy with migrating focal seizures, and other focal seizures with indiscrete interictal-ictal transitions...
September 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Chanyoung Ko, Namwook Kim, Eunjoo Kim, Dong Ho Song, Keun-Ah Cheon
BACKGROUND: As the prevalence of autism spectrum disorders in people with epilepsy ranges from 15 to 47 % (Clarke et al. in Epilepsia 46:1970-1977, 2005), it is speculated that there is a special relationship between the two disorders, yet there has been a lack of systematic studies comparing the behavioral phenotype between autistic individuals and autistic individuals with epilepsy. This study aims to investigate how the co-occurrence of epilepsy and Autism Spectrum Disorder (ASD) affects autistic characteristics assessed by the Social Responsiveness Scale (SRS), which has been used as a measure of autism symptoms in previous studies...
2016: Behavioral and Brain Functions: BBF
Kyoung Jin Hwang, SungSang Yoon, Key-Chung Park
Epilepsia partialis continua is a rare epileptic syndrome observed in patients with brain structural lesions and metabolic disorders. We report a patient with non-ketotic hyperglycaemia presenting as epilepsia partialis continua with reversible focal brain lesions. An 83-year-old woman visited our hospital due to sudden and repetitive left facial twitching lasting for two days. Initial laboratory data revealed serum glucose, osmolality, and sodium levels of 631 mg/dl, 310 mOsm/l, and 130 mEq/l, respectively...
June 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
Bedia Samanci, Pınar Tektürk, Erdem Tüzün, Ece Erdağ, Demet Kınay, Zuhal Yapıcı, Betül Baykan
Rasmussen's encephalitis (RE) is a rare disease with unknown pathophysiology. To disclose whether anti-neuronal autoimmunity participates in the aetiology of RE, various neuronal autoantibodies (NAAbs) were investigated in sera of patients with RE and controls. The study included five patients who fulfilled the RE diagnostic criteria (clinical, EEG, and MRI findings) as the patient group, and 50 multiple sclerosis patients and 50 healthy subjects as the control groups. Sera were evaluated for various NAAbs by radioimmunoassay or cell-based assays...
June 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
O Hikmat, C Tzoulis, P M Knappskog, S Johansson, H Boman, P Sztromwasser, E Lien, E Brodtkorb, D Ghezzi, L A Bindoff
BACKGROUND AND PURPOSE: Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3 is one of several genes associated with CoQ10 deficiency that presents with progressive cerebellar ataxia, epilepsy, migraine and psychiatric disorders. Diagnosis is challenging due to the wide clinical spectrum and overlap with other mitochondrial disorders. METHODS: A detailed description of three new patients and one previously reported patient from three Norwegian families with novel and known ADCK3 mutations is provided focusing on the epileptic semiology and response to treatment...
July 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Victor Ferastraoaru, Andreas Schulze-Bonhage, Richard B Lipton, Matthias Dümpelmann, Alan D Legatt, Julie Blumberg, Sheryl R Haut
OBJECTIVE: Clustered seizures are characterized by shorter than usual interseizure intervals and pose increased morbidity risk. This study examines the characteristics of seizures that cluster, with special attention to the final seizure in a cluster. METHODS: This is a retrospective analysis of long-term inpatient monitoring data from the EPILEPSIAE project. Patients underwent presurgical evaluation from 2002 to 2009. Seizure clusters were defined by the occurrence of at least two consecutive seizures with interseizure intervals of <4 h...
June 2016: Epilepsia
Megan Holec, Yasunori Nagahama, Christopher Kovach, Charuta Joshi
OBJECTIVE: We present a child with Rasmussen encephalitis and highlight the pitfalls of diagnosis when magnetic resonance imaging (MRI) is negative for atrophy. We review the literature regarding this issue, introduce the FreeSurfer software as a potential means of noninvasive diagnosis, and discuss methods for prompt and definitive treatment. METHODS: In addition to the patient description, we review the English language literature regarding pathologic diagnosis of Rasmussen encephalitis using the key words Rasmussen encephalitis, focal lesions, MRI, atrophy, epilepsia partialis continua and hemiparesis in PubMed...
June 2016: Pediatric Neurology
Luisa Santos Pereira, Vanessa Teixeira Müller, Marleide da Mota Gomes, Alexander Rotenberg, Felipe Fregni
Approximately one-third of patients with epilepsy remain with pharmacologically intractable seizures. An emerging therapeutic modality for seizure suppression is repetitive transcranial magnetic stimulation (rTMS). Despite being considered a safe technique, rTMS carries the risk of inducing seizures, among other milder adverse events, and thus, its safety in the population with epilepsy should be continuously assessed. We performed an updated systematic review on the safety and tolerability of rTMS in patients with epilepsy, similar to a previous report published in 2007 (Bae EH, Schrader LM, Machii K, Alonso-Alonso M, Riviello JJ, Pascual-Leone A, Rotenberg A...
April 2016: Epilepsy & Behavior: E&B
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