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Intractable epilepsy

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https://www.readbyqxmd.com/read/28549235/de-novo-mutation-in-depdc5-associated-with-unilateral-pachygyria-and-intractable-epilepsy
#1
Zhidong Cen, Yufan Guo, Yuting Lou, Biao Jiang, Jianda Wang, Jianhua Feng
No abstract text is available yet for this article.
March 25, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28545673/burst-suppression-pattern-on-electroencephalogram-secondary-to-valproic-acid-induced-hyperammonemic-encephalopathy
#2
Koshi A Cherian, Alan D Legatt
BACKGROUND: Valproic acid may induce hyperammonemic encephalopathy. Various electroencephalogram (EEG) abnormalities have been documented in association with this condition, but not burst suppression, an abnormal EEG pattern that is associated with severe encephalopathy. METHODS: Serial EEGs, clinical observations, and laboratory findings were analyzed. PATIENT DESCRIPTION: This 13-year-old girl with autism and intractable epilepsy experienced increased seizures; her valproic acid dose was increased and other antiepileptic drugs were administered...
January 4, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28545339/increased-survival-and-partly-preserved-cognition-in-a-patient-with-aco2-related-disease-secondary-to-a-novel-variant
#3
Siddharth Srivastava, Cynthia S Gubbels, Kira Dies, Anne Fulton, Timothy Yu, Mustafa Sahin
ACO2 encodes aconitase 2, catalyzing the second step of the tricarboxylic acid. To date, there are only 6 reported families with 5 unique ACO2 mutations. Affected individuals can develop intellectual disability, epilepsy, brain atrophy, hypotonia, ataxia, optic atrophy, and retinal degeneration. Here, we report an 18-year-old boy with a novel ACO2 variant discovered on whole-exome sequencing. He presented with childhood-onset ataxia, impaired self-help skills comparable to severe-profound intellectual disability, intractable epilepsy, cerebellar atrophy, peripheral neuropathy, optic atrophy, and pigmentary retinopathy...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28541008/protein-losing-enteropathy-as-a-complication-of-the-ketogenic-diet
#4
Won Kee Ahn, Soyoung Park, Heung Dong Kim
The ketogenic diet is an effective treatment for the patients with intractable epilepsy, however, the diet therapy can sometimes be discontinued by complications. Protein-losing enteropathy is a rarely reported serious complication of the ketogenic diet. We present a 16-month-old Down syndrome baby with protein-losing enteropathy during the ketogenic diet as a treatment for West syndrome. He suffered from diarrhea, general edema and hypoalbuminemia which were not controlled by conservative care for over 1 month...
July 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28527263/-racemose-neurocysticercosis-neuroimaging-guides-the-diagnosis
#5
Carlos Hugo Zapata, Sergio Alberto Vargas, Carlos Santiago Uribe
Neurocysticercosis is the leading cause of parasitosis of the central nervous system and acquired epilepsy in developing countries. The clinical manifestations of neurocysticercosis, especially its racemose variant, are pleomorphic and unspecific, characteristics that hinder the diagnosis and make it a challenge for the clinician.The objective of this report was to describe two cases of racemose neurocysticercosis in which neuroimaging led to the definitive diagnosis. The first case involved a patient with persistent headache and focal neurological signs...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28523469/system-for-automatic-heart-rate-calculation-in-epileptic-seizures
#6
Marcin Kołodziej, Andrzej Majkowski, Remigiusz J Rak, Bartosz Świderski, Andrzej Rysz
This article presents a comprehensive system for automatic heart rate (HR) detection. The system is robust and resistant to disturbances (noise, interferences, artifacts) occurring mainly during epileptic seizures. ECG signal filtration (IIR) and normalization due to skewness and standard deviation were used as preprocessing steps. A key element of the system is a reference QRS complex pattern calculated individually for each ECG recording. Next, a cross-correlation of the reference QRS pattern with short, normalized ECG windows is calculated and the maxima of the correlation are found (R-wave locations)...
May 18, 2017: Australasian Physical & Engineering Sciences in Medicine
https://www.readbyqxmd.com/read/28521671/the-anticonvulsant-effects-of-ketogenic-diet-on%C3%A2-epileptic-seizures-and-potential-mechanisms
#7
Yifan Zhang, Jingwei Xu, Yingchao Zhang, Wei Yang, Bingjin Li
Epilepsy is one of the most commonly diagnosed neurologic disorders with characteristics of epileptic seizures. Although the multitude of anticonvulsant drugs has been developed, recurrent epileptic seizures remain intractable and contribute to the serious morbidity worldwide. Recently, increasing studies have established the beneficial effects of ketogenic diet (KD) on epileptic seizure reduction. Both basic experiments and clinical trials demonstrated that KD significantly reduced seizure frequency with mild adverse effects...
May 17, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28516327/long-term-outcomes-of-epilepsy-surgery-in-tuberous-sclerosis-complex
#8
Shuli Liang, Juncheng Zhang, Zhixian Yang, Shaohui Zhang, Zhiqiang Cui, Jianfei Cui, Jiwu Zhang, Na Liu, Ping Ding
Approximately 50% of patients with tuberous sclerosis complex (TSC) present intractable epilepsy, and surgery is an option for those patients. Hereby, we analyze long-term seizure control and neuropsychological outcomes of epilepsy surgery in patients with TSC. Clinical data were retrospectively collected from 66 patients with TSC and epilepsy followed up over 5 years, 51 of whom underwent epilepsy surgery between 2001 and 2011. Reductions in the number of seizures were analyzed at 1-year (1FU), 5-year (5FU), and 10-year (10FU) follow-ups visits after the operation...
May 17, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28511630/corpus-callosotomy-for-intractable-epilepsy-revisited-the-children-s-hospital-of-michigan-series
#9
Aimee F Luat, Eishi Asano, Ajay Kumar, Harry T Chugani, Sandeep Sood
Corpus callosotomy is a palliative procedure performed to reduce the severity of drug-resistant epilepsy. The authors assessed its efficacy on different seizure types in 20 subjects (age range 5-19 years); 8 with active vagus nerve stimulator. Fifteen had complete callosotomy, 3 had anterior 2/3, and 2 had anterior 2/3 followed later by complete callosotomy. Ten had endoscopic approach. In all, 65% had ≥ 50% reduction of generalized seizures leading to falls (atonic, tonic, myoclonic); 35% became seizure-free (follow-up period: 6 months to 9 years; mean 3 years)...
June 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28493438/deficient-activity-of-alanyl-trna-synthetase-underlies-an-autosomal-recessive-syndrome-of-progressive-microcephaly-hypomyelination-and-epileptic-encephalopathy
#10
Tojo Nakayama, Jiang Wu, Patricia Galvin-Parton, Jody Weiss, Mary R Andriola, R Sean Hill, Dylan Vaughan, Malak El-Quessny, Brenda J Barry, Jennifer N Partlow, A James Barkovich, Jiqiang Ling, Ganeshwaran H Mochida
Aminoacyl-transfer RNA (tRNA) synthetases ligate amino acids to specific tRNAs and are essential for protein synthesis. Although alanyl-tRNA synthetase (AARS) is a synthetase implicated in a wide range of neurological disorders from Charcot-Marie-Tooth (CMT) disease to infantile epileptic encephalopathy, there have been limited data on their pathogenesis. Here we report loss-of-function mutations in AARS in two siblings with progressive microcephaly with hypomyelination, intractable epilepsy and spasticity...
May 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/28490996/cannabidiol-in-patients-with-intractable-epilepsy-due-to-tsc-a-possible-medication-but-not-a-miracle
#11
COMMENT
Katherine Nickels
No abstract text is available yet for this article.
March 2017: Epilepsy Currents
https://www.readbyqxmd.com/read/28488608/epilepsy-surgery-in-children
#12
REVIEW
Sita Jayalakshmi, Sudhindra Vooturi, Swapan Gupta, Manas Panigrahi
Approximately 60% of all patients with epilepsy suffer from focal epilepsy syndromes. In approximately 15% of these patients, the seizures are not adequately controlled with anticonvulsive drugs, and such patients are potential candidates for surgical treatment and majority are children. Epilepsy surgery in children, who have been carefully chosen, can result in either seizure freedom or a marked (>90%) reduction in seizures in approximately two-third of children with intractable seizures. In the multimodality presurgical evaluation approach, sufficient concordance should be established among various independent investigations, thus identifying the location and extent of the epileptogenic zone with a high degree of confidence...
May 2017: Neurology India
https://www.readbyqxmd.com/read/28482107/phasic-rem-transiently-approaches-wakefulness-in-the-human-cortex-a-single-pulse-electrical-stimulation-study
#13
Kiyohide Usami, Riki Matsumoto, Katsuya Kobayashi, Takefumi Hitomi, Masao Matsuhashi, Akihiro Shimotake, Takayuki Kikuchi, Kazumichi Yoshida, Takeharu Kunieda, Nobuhiro Mikuni, Susumu Miyamoto, Ryosuke Takahashi, Akio Ikeda
Study Objectives: To investigate the changes in cortical neural responses induced by external inputs during phasic rapid eye movement (REM) sleep. Methods: Single-pulse electrical stimulation (SPES) was directly applied to the human cortex during REM sleep through subdural electrodes, in seven patients who underwent invasive presurgical evaluation for intractable partial epilepsy. SPES was applied to parts of the cortex through the subdural electrodes, and induced cortical responses were recorded from adjacent and remote cortical areas...
May 8, 2017: Sleep
https://www.readbyqxmd.com/read/28475999/prevalence-and-risk-factors-of-seizure-clusters-in-adult-patients-with-epilepsy
#14
Baibing Chen, Hyunmi Choi, Lawrence J Hirsch, Austen Katz, Alexander Legge, Rebecca A Wong, Alfred Jiang, Kenneth Kato, Richard Buchsbaum, Kamil Detyniecki
PURPOSE: In the current study, we explored the prevalence of physician-confirmed seizure clusters. We also investigated potential clinical factors associated with the occurrence of seizure clusters overall and by epilepsy type. METHODS: We reviewed medical records of 4116 adult (≥16years old) outpatients with epilepsy at our centers for documentation of seizure clusters. Variables including patient demographics, epilepsy details, medical and psychiatric history, AED history, and epilepsy risk factors were then tested against history of seizure clusters...
July 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28474982/posttraumatic-epilepsy-long-term-follow-up-of-children-with-mild-traumatic-brain-injury
#15
Amit Keret, Odeya Bennett-Back, Guy Rosenthal, Tal Gilboa, Moatasim Shweiki, Yigal Shoshan, Mony Benifla
OBJECTIVE Posttraumatic epilepsy (PTE) is a known complication of traumatic brain injury (TBI). The true incidence of PTE in children is still uncertain, because most research has been based primarily on adults. This study aimed to determine the true incidence of PTE in a pediatric population with mild TBI (MTBI) and to identify risk factors for the development of epileptic events. METHODS Data were collected from electronic medical records of children 0-17 years of age, who were admitted to a single medical center between 2007 and 2009 with a diagnosis of MTBI...
May 5, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28470553/intrinsic-functional-organization-of-putative-language-networks-in-the-brain-following-left-cerebral-hemispherectomy
#16
Anna Ivanova, Eran Zaidel, Noriko Salamon, Susan Bookheimer, Lucina Q Uddin, Stella de Bode
In rare cases of severe and intractable epilepsy, cerebral hemispherectomy is performed to arrest seizure activity and improve quality of life. The remaining hemisphere is often capable of supporting many cognitive functions post-surgery, although the outcome depends on the underlying etiology, hemisphere removed, and age of resection. The mechanisms underlying this massive reorganization are at present unknown. Here we examined intrinsic functional connectivity of putative language brain networks in four children after left cerebral hemispherectomy using resting-state functional magnetic resonance imaging (rsfMRI)...
May 3, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28464511/plxna1-developmental-encephalopathy-with-syndromic-features-a-case-report-and-review-of-the-literature
#17
Kaylee Park, Laurie E Seltzer, Emily Tuttle, Ghayda M Mirzaa, Alex R Paciorkowski
Developmental encephalopathies constitute a broad and genetically heterogeneous spectrum of disorders associated with global developmental delay, intellectual disability, frequent epilepsy, and other neurofunctional abnormalities. Here, we report a male presenting with infantile onset epilepsy and syndromic features resembling Dubowitz syndrome identified to have a de novo PLXNA1 variant by whole exome sequencing. This constitutes the second report of PLXNA1 sequence variation associated with early onset epilepsy, and the first to expand on the clinical features of this emerging disorder...
May 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28462391/the-impact-of-electrographic-seizures-on-developing-hippocampal-dendrites-is-calcineurin-dependent
#18
Masataka Nishimura, J R Casanova, John W Swann
Neurobehavioral abnormalities are commonly associated with intractable childhood epilepsy. Studies from numerous labs have demonstrated cognitive and socialization deficits in rats and mice that have experienced early-life seizures. However, the cellular and molecular mechanisms underlying these effects are unknown. Previously, experiments have shown that recurrent seizures in infancy suppress the growth of hippocampal dendrites at the same time they impair learning and memory. Experiments in slice cultures have also demonstrated dendrite growth suppression...
March 2017: ENeuro
https://www.readbyqxmd.com/read/28452654/epilepsy-surgery-for-epileptic-encephalopathy-as-a-sequela-of-herpes-simplex-encephalitis-case-report
#19
Birce Dilge Taskin, Kurenai Tanji, Neil A Feldstein, Maureen McSwiggan-Hardin, Cigdem I Akman
Herpes simplex virus (HSV) encephalitis can manifest with different clinical presentations, including acute monophasic illness and biphasic chronic granulomatous HSV encephalitis. Chronic encephalitis is much less common, and very rare late relapses are associated with intractable epilepsy and progressive neurological deficits with or without evidence of HSV in the cerebrospinal fluid. The authors report on an 8-year-old girl with a history of treated HSV-1 encephalitis when she was 13 months of age and focal epilepsy when she was 2 years old...
April 28, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28452614/outcomes-after-hemispherectomy-in-adult-patients-with-intractable-epilepsy-institutional-experience-and-systematic-review-of-the-literature
#20
Courtney M Schusse, Kris Smith, Cornelia Drees
OBJECTIVE Hemispherectomy is a surgical technique that is established as a standard treatment in appropriately selected patients with drug-resistant epilepsy. It has proven to be successful in pediatric patients with unilateral hemispheric lesions but is underutilized in adults. This study retrospectively evaluated the clinical outcomes after hemispherectomy in adult patients with refractory epilepsy. METHODS This study examined 6 cases of hemispherectomy in adult patients at Barrow Neurological Institute. In addition, all case series of hemispherectomy in adult patients were identified through a literature review using MEDLINE and PubMed...
April 28, 2017: Journal of Neurosurgery
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