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https://www.readbyqxmd.com/read/29896722/-study-of-grin2a-mutation-in-epilepsy-aphasia-spectrum-disorders
#1
Ping Qian, Xiaoling Yang, Xiaojing Xu, Xiaoyan Liu, Yuehua Zhang, Zhixian Yang
OBJECTIVE: To detect potential mutations of the glutamate receptor subunit (GRIN2A) gene and delineate the clinical-genetic characteristics of patients with epilepsy-aphasia spectrum (EAS) disorders. METHODS: One hundred twenty two patients with Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS), benign childhood epilepsy with centrotemporal spikes (BECT) and BECT variants were recruited. Potential mutations of the GRIN2A gene were screened with Sanger sequencing...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29850273/desmoplastic-fibroma-recurrence-associated-with-tuberous-sclerosis-in-a-young-patient
#2
A M Espinoza-Coronado, J P Loyola-Rodríguez, J H Olvera-Delgado, J O García-Cortes, J F Reyes-Macías
Case Report . A nine-year-old patient with a diagnosis of tuberous sclerosis (with no pathological record) that showed calcifications at the brain level. Besides, the case showed the Vogt triad (epilepsy, mental retardation, and sebaceous adenoma). The patient clinically showed a volume increase of hard consistency, without suppuration and no sessile that included the following teeth 73, 74, and 75. Cone beam computed tomography (CBCT) was obtained, and it displayed a delimited unilocular lesion. After surgical excision, the histopathological report was desmoplastic fibroma (DF)...
2018: Case Reports in Dentistry
https://www.readbyqxmd.com/read/29844171/dynamic-action-potential-clamp-predicts-functional-separation-in-mild-familial-and-severe-de-novo-forms-of-scn2a-epilepsy
#3
Géza Berecki, Katherine B Howell, Yadeesha H Deerasooriya, Maria Roberta Cilio, Megan K Oliva, David Kaplan, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou
De novo variants in SCN2A developmental and epileptic encephalopathy (DEE) show distinctive genotype-phenotype correlations. The two most recurrent SCN2A variants in DEE, R1882Q and R853Q, are associated with different ages and seizure types at onset. R1882Q presents on day 1 of life with focal seizures, while infantile spasms is the dominant seizure type seen in R853Q cases, presenting at a median age of 8 months. Voltage clamp, which characterizes the functional properties of ion channels, predicted gain-of-function for R1882Q and loss-of-function for R853Q...
May 29, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29803873/transcranial-magnetic-stimulation-in-myoclonus-of-different-aetiologies
#4
REVIEW
Raffaele Nardone, Viviana Versace, Yvonne Höller, Luca Sebastianelli, Francesco Brigo, Piergiorgio Lochner, Stefan Golaszewski, Leopold Saltuari, Eugen Trinka
Transcranial magnetic stimulation (TMS) may represent a valuable tool for investigating important neurophysiological and pathophysiological aspects of myoclonus. Moreover, repetitive TMS (rTMS) can influence neural activity. In this review we performed a systematic search of all studies using TMS in order to explore cortical excitability/plasticity and rTMS for the treatment of myoclonus due to different aetiologies. We identified and reviewed 40 articles matching the inclusion criteria; 415 patients were included in these studies...
May 24, 2018: Brain Research Bulletin
https://www.readbyqxmd.com/read/29801191/neonatal-alexander-disease-novel-gfap-mutation-and-comparison-to-previously-published-cases
#5
Oula Knuutinen, Maria Kousi, Maria Suo-Palosaari, Jukka S Moilanen, Hannu Tuominen, Leena Vainionpää, Tarja Joensuu, Anna-Kaisa Anttonen, Johanna Uusimaa, Anna-Elina Lehesjoki, Päivi Vieira
Alexander disease (AxD) is a genetic leukodystrophy caused by GFAP mutations leading to astrocyte dysfunction. Neonatal AxD is a rare phenotype with onset in the first month of life. The proband, belonging to a large pedigree with dominantly inherited benign familial neonatal epilepsy (BFNE), had a phenotype distinct from the rest of the family, with hypotonia and macrocephaly in addition to drug-resistant neonatal seizures. The patient deteriorated and passed away at 6 weeks of age. The pathological and neuroimaging data were consistent with the diagnosis of AxD...
May 25, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29790011/consecutive-occurrence-of-benign-epilepsy-with-centro-temporal-spike-and-childhood-absence-epilepsy-true-coexistence-or-atypical-evolution
#6
EDITORIAL
Eun Hye Lee, Hoi Soo Yoon
No abstract text is available yet for this article.
May 22, 2018: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/29774303/myotonia-permanens-with-nav1-4-g1306e-displays-varied-phenotypes-during-course-of-life
#7
Frank Lehmann-Horn, Adele D'Amico, Enrico Bertini, Mauro Lomonaco, Luciano Merlini, Kevin R Nelson, Heike Philippi, Gabriele Siciliano, Frank Spaans, Karin Jurkat-Rott
Introduction: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. Methods: Clinical neurophysiology and genetic analysis were performed. Using existing functional expression data we determined the sodium window by integration. Results: In 10 unrelated patients who were believed to have epilepsy, respiratory disease or Schwartz-Jampel syndrome, we made the same prima facie diagnosis and detected the same heterologous Nav1...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29764460/benign-and-severe-early-life-seizures-a-round-in-the-first-year-of-life
#8
REVIEW
Piero Pavone, Giovanni Corsello, Martino Ruggieri, Silvia Marino, Simona Marino, Raffaele Falsaperla
At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment...
May 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29754875/spike-persistence-and-normalization-in-benign-epilepsy-with-centrotemporal-spikes-implications-for-management
#9
Hunmin Kim, Soo Yeon Kim, Byung Chan Lim, Hee Hwang, Jong-Hee Chae, Jieun Choi, Ki Joong Kim, Dennis J Dlugos
PURPOSE: This study was performed 1) to determine the timing of spike normalization in patients with benign epilepsy with centrotemporal spikes (BECTS); 2) to identify relationships between age of seizure onset, age of spike normalization, years of spike persistence and treatment; and 3) to assess final outcomes between groups of patients with or without spikes at the time of medication tapering. METHODS: Retrospective analysis of BECTS patients confirmed by clinical data, including age of onset, seizure semiology and serial electroencephalography (EEG) from diagnosis to remission...
May 10, 2018: Brain & Development
https://www.readbyqxmd.com/read/29730501/language-skills-in-children-with-benign-childhood-epilepsy-with-centrotemporal-spikes-a-systematic-review
#10
REVIEW
Joana Teixeira, Maria Emília Santos
Benign childhood epilepsy with centrotemporal spikes (BECTS) is the epileptic syndrome that most affects preschool and school-age children. Despite being usually considered a benign condition, several studies have shown that this epileptic syndrome is responsible for cognitive morbidities in children, namely at the level of attention and memory, as well as language. However, language disorders are still superficially addressed by the literature. This review aimed to compile and synthesize recent literature in this area...
May 3, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29720203/detection-rate-of-causal-variants-in-severe-childhood-epilepsy-is-highest-in-patients-with-seizure-onset-within-the-first-four-weeks-of-life
#11
David Staněk, Petra Laššuthová, Katalin Štěrbová, Markéta Vlčková, Jana Neupauerová, Marcela Krůtová, Pavel Seeman
BACKGROUND: Epilepsy is a heterogeneous disease with a broad phenotypic spectrum and diverse genotypes. A significant proportion of epilepsies has a genetic aetiology. In our study, a custom designed gene panel with 112 genes known to be associated with epilepsies was used. In total, one hundred and fifty-one patients were tested (86 males / 65 females). RESULTS: In our cohort, the highest probability for the identification of the cause of the disease was for patients with a seizure onset within the first four weeks of life (61...
May 2, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29713355/epilepsy-syndromes-during-the-first-year-of-life-and-the-usefulness-of-an-epilepsy-gene-panel
#12
REVIEW
Eun Hye Lee
Recent advances in genetics have determined that a number of epilepsy syndromes that occur in the first year of life are associated with genetic etiologies. These syndromes range from benign familial epilepsy syndromes to early-onset epileptic encephalopathies that lead to poor prognoses and severe psychomotor retardation. An early genetic diagnosis can save time and overall cost by reducing the amount of time and resources expended to reach a diagnosis. Furthermore, a genetic diagnosis can provide accurate prognostic information and, in certain cases, enable targeted therapy...
April 2018: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29704689/postictal-delirium-and-violent-behavior-in-patients-with-post-neurosurgical-epilepsy
#13
Bilel Oueslati, Feten Fekih-Romdhane, Rym Ridha
Neurosurgical brain interventions may result in lesions which can cause epilepsy. Diagnosis may in some situations be delayed. Meanwhile violent behavior can occur during postictal delirium states. While benign behavioral manifestations are well documented in literature, violent offenses with post neurosurgical epilepsy are sparsely reported. Our aim was to illustrate such situations, to focus on management and to emphasize on prevention's necessity. Our paper reports data related to two patients. Both were suffering from a post-neurosurgical epilepsy and offended during postictal delirium states...
April 25, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29668616/lung-metastases-from-intracranial-bleeding-meningioma-a-case-report
#14
Su Hu, Yaqi Zhang, Yue Sun, Yang Yu, Jia Wang, Hui Dai, Feng Sun, Chunhong Hu
RATIONALE: Meningioma is slow-growing benign neoplasm that derived from the meningothelial cells of the arachnoid mater, and it is the most common type of primary brain tumor. Although cases of extracranial metastatic meningioma have been reported previously, few cases have reported the concurrent occurrence of primary meningioma with intratumoral bleeding and lung metastases. Here we report a case of meningioma with concurrent intratumoral bleeding and lung metastases. PATIENT CONCERNS: The patient was admitted to our hospital with sudden left limb paralysis combined with complaints of headache and dizziness...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29649723/the-relevance-of-attention-deficit-hyperactivity-disorder-in-self-limited-childhood-epilepsy-with-centrotemporal-spikes
#15
Ellen Marise Lima, Patricia Rzezak, Bernardo Dos Santos, Letícia Gentil, Maria A Montenegro, Marilisa M Guerreiro, Kette D Valente
In this study, we aimed to evaluate the attentional and executive functions in patients with benign childhood epilepsy with centrotemporal spikes (BCECTS) with and without attention-deficit hyperactivity disorder (ADHD) compared with controls and compared with patients with ADHD without epilepsy. We evaluated 12 patients with BCECTS and ADHD (66.7% boys; mean age of 9.67years); 11 children with non-ADHD BCECTS (63.6% boys; mean age of 11.91years); 20 healthy children (75% boys; mean age of 10.15years); and 20 subjects with ADHD without epilepsy (60% boys; mean age of 10...
May 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29645068/-frequency-semiology-and-prognosis-of-benign-infantile-epilepsy
#16
J Ramos-Lizana, G Martinez-Espinosa, M I Rodriguez-Lucenilla, J Aguirre-Rodriguez, P Aguilera-Lopez
INTRODUCTION: Benign infantile epilepsy is an epileptic syndrome of infancy. Until now, only a small number of case-series have been published. AIM: To study the frequency, semiology and prognosis of benign infantile epilepsy. PATIENTS AND METHODS: The 827 patients with one or more epileptic seizures seen at our hospital between 1 June 1994 and 1 March 2011 were included and prospectively followed. A diagnosis of benign infantile epilepsy was made in patients that fulfilled the following criteria at six month of evolution: one or more focal and/or generalised seizures, onset before 24 months, no neurological deficit and normal neuroimaging and interictal EEG...
April 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29629540/role-of-language-related-functional-connectivity-in-patients-with-benign-childhood-epilepsy-with-centrotemporal-spikes
#17
Hyeon Jin Kim, Jung Hwa Lee, Chang Hyun Park, Hye Sun Hong, Yun Seo Choi, Jeong Hyun Yoo, Hyang Woon Lee
BACKGROUND AND PURPOSE: Benign childhood epilepsy with centrotemporal spikes (BECTS) does not always have a benign cognitive outcome. We investigated the relationship between cognitive performance and altered functional connectivity (FC) in the resting-state brain networks of BECTS patients. METHODS: We studied 42 subjects, comprising 19 BECTS patients and 23 healthy controls. Cognitive performance was assessed using the Korean version of the Wechsler Intelligence Scale for Children-III, in addition to verbal and visuospatial memory tests and executive function tests...
January 2018: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29625812/scn2a-mutation-in-an-infant-presenting-with-migrating-focal-seizures-and-infantile-spasm-responsive-to-a-ketogenic-diet
#18
Da-Jyun Su, Jyh-Feng Lu, Li-Ju Lin, Jao-Shwann Liang, Kun-Long Hung
SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS). Thus far, no particularly effective treatment is available for severe epileptic encephalopathy caused by SCN2A mutations in children. We present the case of a boy who developed seizures on the third day of life and received a diagnosis of EIMFS based on his clinical presentations and electroencephalography reports...
April 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29614566/-spectrum-of-mutations-in-benign-familial-neonatal-infantile-epilepsy
#19
Q Zeng, Y H Zhang, X L Yang, L H Pu, J Zhang, A J Liu, Z X Yang, X Y Liu, X R Wu
Objective: To investigate the spectrum of mutations in families with benign familial neonatal-infantile epilepsy (BFNIE) . Methods: Clinical data and peripheral blood DNA samples of all BFNIE probands and their family members were collected from Peking University First Hospital between December 2012 and April 2016. Clinical phenotypes of affected members were analyzed. Genomic DNA was extracted from peripheral blood samples with standard protoco1. Mutations in PRRT2 were screened using Sanger sequencing. For families that PRRT2 mutations were not detected by Sanger sequencing, candidate gene mutations were further screened by next-generation sequencing for epilepsy...
April 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29610055/language-function-in-childhood-idiopathic-epilepsy-syndromes
#20
D C Jackson, J E Jones, D A Hsu, C E Stafstrom, J J Lin, D Almane, M A Koehn, M Seidenberg, B P Hermann
PURPOSE: To examine the impact of diverse syndromes of focal and generalized epilepsy on language function in children with new and recent onset epilepsy. Of special interest was the degree of shared language abnormality across epilepsy syndromes and the unique effects associated with specific epilepsy syndromes. METHODS: Participants were 136 youth with new or recent-onset (diagnosis within past 12 months) epilepsy and 107 healthy first-degree cousin controls...
March 30, 2018: Brain and Language
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