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epilepsia partialis

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https://www.readbyqxmd.com/read/28292732/alternating-hemiplegia-and-epilepsia-partialis-continua-a-new-phenotype-for-a-novel-compound-tbc1d24-mutation
#1
Francesca Ragona, Barbara Castellotti, Barbara Salis, Stefania Magri, Jacopo C DiFrancesco, Nardo Nardocci, Silvana Franceschetti, Cinzia Gellera, Tiziana Granata
Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait. The TBC1D24 gene encodes a member of the TBC family domain proteins, involved in cell signaling and oxidative stress resistance. We studied, by a Next Generation Sequencing (NGS) target re-sequencing gene approach, the DNA of a 5 year-old girl, affected by recurrent attacks of Alternating Hemiplegia (AH) and by recurrent episodes of Epilepsia Partialis Continua (EPC)...
April 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28239546/functional-hemispherotomy-in-rasmussen-syndrome-in-the-absence-of-classic-mri-findings
#2
Yasunori Nagahama, Charuta Joshi, Brian Dlouhy, Angela Y Wu, Taylor J Abel, Gary Baumbach, Hiroto Kawasaki
A 7-year-old previously healthy girl presented with a left-sided focal seizure without impaired consciousness and subsequently developed epilepsia partialis continua. Initial MRI was normal, and the subsequent images only showed a focal T2/FLAIR hyperintense area without cortical atrophy. She was diagnosed with Rasmussen syndrome by pathology and promptly treated with functional hemispherotomy. Rasmussen syndrome is a rare progressive neurological disorder, the only definitive cure for which is hemispheric disconnection...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28238390/electro-clinical-etiological-associations-of-epilepsia-partialis-continua-in-57-chinese-children
#3
Hui Li, Jiao Xue, Ping Qian, Yuehua Zhang, Xinhua Bao, Xiaoyan Liu, Zhixian Yang
OBJECTIVE: Epilepsia partialis continua (EPC) was one type of focal status epilepticus. The aim of this study was to analyze the clinical and electroencephalography (EEG) characteristics, and outcome of 57 child-onset patients with EPC according to different etiologies, and further explore the electro-clinical-etiological associations. METHODS: We retrospectively reviewed 57 children diagnosed with EPC in our department over last ten years. Etiology, clinical and EEG data, and outcome were categorized and analyzed...
February 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28029552/epilepsia-partialis-continua-a-review
#4
REVIEW
Rūta Mameniškienė, Peter Wolf
Epilepsia partialis contina (EPC) in a narrow definition is a variant of simple focal motor status epilepticus in which frequent repetitive muscle jerks, usually arrhythmic, continue over prolonged periods of time. In a broader definition (used in this review) it also includes non-motor manifestations otherwise known as aura continua. EPC may occur as a single episode, repetitive episodes, it may be chronic progressive or non-progressive. It appears as an unusual manifestation of epilepsy in which more typical paroxysmal events are partly or entirely replaced by the sustained repetition of seizure fragments in rapid succession...
January 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28025397/lingual-epilepsia-partialis-continua-in-neurocysticercosis
#5
Sachin Sureshbabu, Dinesh Nayak, Gaurav Mittal, Sudhir Peter, Chindripu Sobhana, Vikash Aggarwal
No abstract text is available yet for this article.
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/28018466/a-young-child-of-anti-nmda-receptor-encephalitis-presenting-with-epilepsia-partialis-continua-the-first-pediatric-case-in-korea
#6
Eun-Hee Kim, Yeo Jin Kim, Tae-Sung Ko, Mi-Sun Yum, Jun Hwa Lee
Anti-N-methyl D-aspartate receptor (anti-NMDAR) encephalitis, recently recognized as a form of paraneoplastic encephalitis, is characterized by a prodromal phase of unspecific illness with fever that resembles a viral disease. The prodromal phase is followed by seizures, disturbed consciousness, psychiatric features, prominent abnormal movements, and autonomic imbalance. Here, we report a case of anti-NMDAR encephalitis with initial symptoms of epilepsia partialis continua in the absence of tumor. Briefly, a 3-year-old girl was admitted to the hospital due to right-sided, complex partial seizures without preceding febrile illness...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/27913085/anti-n-methyl-d-aspartate-receptor-encephalitis-and-rasmussen-like-syndrome-an-association
#7
Kevin Gurcharran, Shefali Karkare
BACKGROUND: N-methyl-D-aspartate (NMDA) receptor encephalitis is an immune-mediated condition that has a broad spectrum of manifestations, including seizures, coma, psychosis, and focal neurological deficits. Although usually a diffuse process, unihemispheric involvement mimicking early stages of Rasmussen encephalitis can occur. Rasmussen's encephalitis is a unique syndrome characterized by progressive hemiplegia, drug-resistant focal epilepsy, cognitive decline, and hemispheric brain atrophy contralateral to the hemiplegia...
January 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/27910806/epilepsia-partialis-continua-aetiology-semiology-and-prognosis-in-a-spanish-adult-cohort
#8
Helena Bejr-Kasem, Jacint Sala-Padró, Manuel Toledo, Estevo Santamarina, Silvana Sarria, Montserrat Gonzalez-Cuevas, María Sueiras-Gil, Manolo Quintana, Xavier Salas-Puig
To describe the semiological features in patients suffering with Epilepsia Partialis Continua (EPC), also referred as Kozhevnikov syndrome and their relationship with aetiology, duration, and prognosis, as well as recurrence during follow-up. We analysed consecutive EPC patients diagnosed and followed in our centre over a seven-and-a half year period. We collected demographic and clinical data, along with neuroimaging and EEG recordings. All patients were followed for more than six months. Patients were categorised with single body area or multiple body area involvement according to the body parts affected...
December 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27784487/-epilepsia-partialis-continua
#9
H Li, Z X Yang
No abstract text is available yet for this article.
October 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27742419/complex-i-deficiency-related-to-t10158c-mutation-nd3-gene-a-further-definition-of-the-clinical-spectrum
#10
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...
March 2017: Brain & Development
https://www.readbyqxmd.com/read/27707529/antineuronal-nuclear-autoantibody-type-1-anti-hu-associated-opsoclonus-myoclonus-and-epilepsia-partialis-continua-case-report-and-literature-review
#11
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 examples of ANNA-1/anti-Hu antibodies in children with neuroblastoma and opsoclonus-myoclonus, all in children aged less than three years of age. METHODS: We describe 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...
December 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27698564/epilepsia-partialis-continua-present-with-shoulder-joint-trunk-hip-joint-rhythmic-clonic-seizure-a-case-report
#12
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
https://www.readbyqxmd.com/read/27667494/-nmda-glur-subunit-antibody-positive-encephalitis-a-clinical-analysis-of-five-cases
#13
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
https://www.readbyqxmd.com/read/27636327/mortality-following-status-epilepticus-in-persons-with-and-without-epilepsy
#14
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...
November 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27502353/electroclinical-phenotypes-and-outcomes-in-tbc1d24-related-epilepsy
#15
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
https://www.readbyqxmd.com/read/27279640/non-ketotic-hyperglycaemia-presenting-as-epilepsia-partialis-continua
#16
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
https://www.readbyqxmd.com/read/27248684/neuronal-autoantibodies-in-patients-with-rasmussen-s-encephalitis
#17
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
https://www.readbyqxmd.com/read/27106809/adck3-mutations-with-epilepsy-stroke-like-episodes-and-ataxia-a-polg-mimic
#18
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
https://www.readbyqxmd.com/read/27004940/rethinking-the-magnetic-resonance-imaging-findings-in%C3%A2-early%C3%A2-rasmussen-encephalitis-a-case-report-and-review-of%C3%A2-the%C3%A2-literature
#19
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
https://www.readbyqxmd.com/read/26970993/safety-of-repetitive-transcranial-magnetic-stimulation-in-patients-with-epilepsy-a-systematic-review
#20
REVIEW
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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