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https://www.readbyqxmd.com/read/28441826/-a-childhood-onset-rapid-onset-dystonia-parkinsonism-family-with-atp1a3-gene-mutation-and-literatures-review
#1
C L Zhang, F Yin, F He, N Gai, Z Q Shi, J Peng
Objective: To explore clinical characteristics, treatment, and prognosis of a family with childhood-onset rapid-onset dystonia parkinsonism (RDP) caused by ATP1A3 gene mutation and review literatures. Method: The clinical data of a RDP child, his brother and mother had been analyzed retrospectively. This family was admitted to Xiangya Hospital in January 2016. DNA samples were analyzed by the next-generation sequencing and confirmed by Sanger sequencing. Related literature from PubMed, Online Mendelian Inheritance in Man (OMIM), CNKI and Wanfang databases to date (up to October 2016) with"Rapid-onset dystonia-parkinsonism"RDP"DYT12" as key words was reviewed...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441825/-progressive-cavitating-leukoencephalopathy-four-cases-and-literatures-review
#2
C H Ren, F Fang, H Cheng, C H Ding, C H Chen, Y J Zhang, D M Shen
Objective: To analyze the clinical and genetic features of progressive cavitating leukoencephalopathy (PCL). Method: The data of clinical and genetic features of 4 PCL patients diagnosed by Beijing Children's Hospital between January 2015 and January 2016 were analyzed. The cases with complete clinical data retrieved on literature search at China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform and PubMed (up to August 2016) by using search terms of"NDUFV1" ,"NDUFS1" , or"leukoencephalopathy" , were summarized...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441824/-clinical-and-neuroimaging-features-of-acute-encephalopathy-after-status-epilepticus-in-dravet-syndrome
#3
X J Tian, Y H Zhang, A J Liu, X L Yang, Q Zeng, Z X Yang, J T Ye, X Y Liu, Y W Jiang, X R Wu
Objective: To investigate the clinical and neuroimaging characteristics of acute encephalopathy (AE) after status epilepticus (SE) of patients with Dravet syndrome (DS). Method: The clinical data of DS patients who had AE (coma ≥24 h) after SE were retrospectively collected from February 2005 to August 2016 in Peking University First Hospital and SCN1A gene tests were performed.The clinical and neuroimaging features were summarized. Result: Twenty-two patients (9 males and 13 females) with AE were collected among 412 DS patients during follow-up...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28441636/psychological-features-and-quality-of-life-in-50-adult-patients-with-epilepsy-and-their-caregivers-from-the-lecco-epilepsy-center-italy
#4
Alessandra Petruzzi, Andrea Rigamonti, Claudia Yvonne Finocchiaro, Paolo Borelli, Elena Lamperti, Antonio Silvani, Rossana Regazzoni, Lorenzo Stanzani, Andrea Salmaggi
Epilepsy is one of the most common neurological disorders. To the best of our knowledge, in Italy, the relationship between patients' and caregivers' psychological state has rarely been analyzed. Thus, we sought to evaluate both the psychological state of patients with epilepsy and that of their caregivers and the interrelationship between them. We also assessed the existing relation between psychological features and some clinical and demographic information, such as number of antiepileptic drugs (AEDs), epilepsy duration and education level of patients and their caregivers...
April 22, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28441632/emergency-computed-tomography-in-patients-with-first-seizure
#5
Kaisa Kotisaari, Pekka Virtanen, Nina Forss, Daniel Strbian, Filip Scheperjans
PURPOSE: To determine the frequency of emergent imaging findings on head computed tomography (CT) in an adult population of first seizure (FS) patients presenting to an emergency department (ED); and to search for associations between clinical features and emergent imaging findings among these patients. METHODS: For this retrospective registry-based study, adult FS patients presenting to Helsinki University Hospital ED in 2006 were identified based on ICD-10 diagnosis...
April 17, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28441409/a-hypomorphic-piga-gene-mutation-causes-severe-defects-in-neuron-development-and-susceptibility-to-complement-mediated-toxicity-in-a-human-ipsc-model
#6
Xuan Yuan, Zhe Li, Andrea C Baines, Eleni Gavriilaki, Zhaohui Ye, Zhexing Wen, Evan M Braunstein, Leslie G Biesecker, Linzhao Cheng, Xinzhong Dong, Robert A Brodsky
Mutations in genes involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis underlie a group of congenital syndromes characterized by severe neurodevelopmental defects. GPI anchored proteins have diverse roles in cell adhesion, signaling, metabolism and complement regulation. Over 30 enzymes are required for GPI anchor biosynthesis and PIGA is involved in the first step of this process. A hypomorphic mutation in the X-linked PIGA gene (c.1234C>T) causes multiple congenital anomalies hypotonia seizure syndrome 2 (MCAHS2), indicating that even partial reduction of GPI anchored proteins dramatically impairs central nervous system development, but the mechanism is unclear...
2017: PloS One
https://www.readbyqxmd.com/read/28440954/heart-rate-variability-indices-as-predictors-of-the-response-to-vagus-nerve-stimulation-in-patients-with-drug-resistant-epilepsy
#7
Hongyun Liu, Zhao Yang, Lei Huang, Wei Qu, Hongwei Hao, Luming Li
OBJECTIVE: To assess heart-rate variability (HRV) measures of interictal electrocardiography (ECG) for drug-resistant epilepsy and to relate the findings to the outcome of vagus nerve stimulation (VNS) treatment. METHODS: Time-domain, frequency-domain, and nonlinear analyses were used to analyze preoperative HRV measures in 32 patients with drug-resistant epilepsy who had received VNS implants at the same hospital and 32 healthy age- and sex-matched control subjects...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28440900/phosphoglycerate-dehydrogenase-phgdh-deficiency-without-epilepsy-mimicking-primary-microcephaly
#8
Antoine Poli, Yoann Vial, Damien Haye, Sandrine Passemard, Manuel Schiff, Hala Nasser, Catherine Delanoe, Emma Cuadro, Rémi Kom, Narcisse Elanga, Anne Favre, Séverine Drunat, Alain Verloes
Phosphoglycerate dehydrogenase (PHGDH) deficiency (OMIM 256520) is a rare autosomal recessive disorder of serine synthesis, with mostly severe congenital microcephaly, caused by mutations in the PHGDH gene. Fourteen patients reported to date show severe, early onset, drug resistant epilepsy. In a cohort of patients referred for primary microcephaly, compound heterozygosity for two unreported variants in PHGDG was identified by exome sequencing in a pair of sibs who died aged 4.5 months and 4.5 years. They had severe neurological involvement with congenital microcephaly, disorganized EEG, and progressive spasticity, but never had seizures...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28440867/the-epileptology-of-koolen-de-vries-syndrome-electro-clinico-radiologic-findings-in-31-patients
#9
Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their families. While there, we recruited individuals with KdVS and seizures, and performed thorough phenotyping...
April 25, 2017: Epilepsia
https://www.readbyqxmd.com/read/28439951/incidence-and-risk-factors-of-hypotension-after-intravenous-fosphenytoin-administration
#10
H K Kim, I G Hwang, I-S Koh, D W Kim
WHAT IS KNOWN AND OBJECTIVE: Fosphenytoin (FOS) administered intravenously offers several benefits over intravenously administered phenytoin, including a faster infusion rate, decreased pain and irritation at the infusion site, and fewer cardiovascular complications. However, some studies suggest that the intravenous administration of FOS in some patients may also induce adverse cardiovascular events. Here, we investigated the clinical characteristics of patients who experienced hypotension following an intravenous infusion of a FOS loading dose...
April 24, 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/28439890/herpes-simplex-virus-induced-anti-n-methyl-d-aspartate-receptor-encephalitis-a-systematic-literature-review-with-analysis-of-43-cases
#11
REVIEW
Margherita Nosadini, Shekeeb S Mohammad, Francesco Corazza, Ezia Maria Ruga, Kavitha Kothur, Giorgio Perilongo, Anna Chiara Frigo, Irene Toldo, Russell C Dale, Stefano Sartori
AIM: To conduct a systematic literature review on patients with biphasic disease with herpes simplex virus (HSV) encephalitis followed by anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. METHOD: We conducted a case report and systematic literature review (up to 10 December 2016), focused on differences between herpes simplex encephalitis (HSE) and anti-NMDAR encephalitis phases, age-related characteristics of HSV-induced anti-NMDAR encephalitis, and therapy...
April 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28439683/genistein-modulation-of-seizure-involvement-of-estrogen-and-serotonin-receptors
#12
Saeed Amiri Gheshlaghi, Razieh Mohammad Jafari, Mohammad Algazo, Nastaran Rahimi, Hussein Alshaib, Ahmad Reza Dehpour
Genistein, a major source of phytoestrogen exposure for humans and animals, has been shown to mediate neuroprotection in Alzheimer's disease and status epilepticus. In the present study, we investigated the effect of genistein on pentylenetetrazole-induced seizures in ovariectomized mice and the possible involvement of estrogenic and serotonergic pathways in the probable effects of genistein. Intraperitoneal (i.p.) administration of genistein (10 mg/kg) significantly increased the seizure threshold 30 min prior to induction of seizures 14 days after ovariectomy surgery...
April 24, 2017: Journal of Natural Medicines
https://www.readbyqxmd.com/read/28439226/the-phosphodiesterase-10a-inhibitor-pf-2545920-enhances-hippocampal-excitability-and-seizure-activity-involving-the-upregulation-of-glua1-and-nr2a-in-post-synaptic-densities
#13
Yanke Zhang, Baobing Gao, Fangshuo Zheng, Shanshan Lu, Yun Li, Yan Xiong, Qin Yang, Yong Yang, Pengfei Fu, Fei Xiao, Xuefeng Wang
Phosphodiesterase regulates the homeostasis of cAMP and cGMP, which increase the strength of excitatory neural circuits and/or decrease inhibitory synaptic plasticity. Abnormally, synchronized synaptic transmission in the brain leads to seizures. A phosphodiesterase 10A (PDE10A) inhibitor PF-2545920 has recently attracted attention as a potential therapy for neurological and psychiatric disorders. We hypothesized that PF-2545920 plays an important role in status epilepticus (SE) and investigated the underlying mechanisms...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28439198/assessment-of-tumors-in-children-with-tuberous-sclerosis-a-single-centre-s-experience
#14
Suna Emir, Şadan Hacısalihoğlu, Derya Özyörük, Filiz Ekici, Aydan Değerliyurt, Alev Güven, İlker Çetin
AIM: As a result of mutations in TSC1 (9q34) and TSC2 (16p13.3) tumor supressor genes, the mammalian target of the rapamycin (mTor) signaling pathway is overactivated in patients with tuberous sclerosis. Abnormal cell proliferation and differentiation is responsible for the growth several different tumors. The aim of this study was to review tumors in our patients with tuberous sclerosis. MATERIAL AND METHODS: Thirty-six patients with tuberous sclerosis were reviewed retrospectively in terms of age, sex, family history, clinical findings, presence of tumors, and treatments...
March 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28438844/author-response-hand-postures-in-primary-and-secondary-generalized-tonic-clonic-seizures
#15
Jason L Siegel
No abstract text is available yet for this article.
April 25, 2017: Neurology
https://www.readbyqxmd.com/read/28438843/letter-re-hand-postures-in-primary-and-secondary-generalized-tonic-clonic-seizures
#16
Douglas J Lanska
No abstract text is available yet for this article.
April 25, 2017: Neurology
https://www.readbyqxmd.com/read/28438841/practice-guideline-summary-sudden-unexpected-death-in-epilepsy-incidence-rates-and-risk-factors-report-of-the-guideline-development-dissemination-and-implementation-subcommittee-of-the-american-academy-of-neurology-and-the-american-epilepsy-society
#17
Cynthia Harden, Torbjörn Tomson, David Gloss, Jeffrey Buchhalter, J Helen Cross, Elizabeth Donner, Jacqueline A French, Anthony Gil-Nagel, Dale C Hesdorffer, W Henry Smithson, Mark C Spitz, Thaddeus S Walczak, Josemir W Sander, Philippe Ryvlin
OBJECTIVE: To determine the incidence rates of sudden unexpected death in epilepsy (SUDEP) in different epilepsy populations and address the question of whether risk factors for SUDEP have been identified. METHODS: Systematic review of evidence; modified Grading Recommendations Assessment, Development, and Evaluation process for developing conclusions; recommendations developed by consensus. RESULTS: Findings for incidence rates based on 12 Class I studies include the following: SUDEP risk in children with epilepsy (aged 0-17 years) is 0...
April 25, 2017: Neurology
https://www.readbyqxmd.com/read/28438654/dysembryoplastic-neuroectodermal-tumor-an-analysis-from-the-surveillance-epidemiology-and-end-results-program-2004-2013
#18
Ha Nguyen, Ninh Doan, Michael Gelsomino, Saman Shabani
INTRODUCTION: Dysembryoplastic neuroectodermal tumor (DNT) is a rare neoplasm. Though the pathology is commonly considered benign, there have been various reports documenting rapid growth, recurrence/ progression, sudden death, and malignant transformation. Most studies have addressed outcomes regarding seizure control, but limited data exist regarding incidence and survival. Consequently, we explore the Surveillance, Epidemiology, and End Results (SEER) database to explore the epidemiology of DNT...
April 21, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28438505/turning-down-the-volume-astrocyte-volume-change-in-the-generation-and-termination-of-epileptic-seizures
#19
REVIEW
Thomas R Murphy, Devin K Binder, Todd A Fiacco
Approximately 1% of the global population suffers from epilepsy, a class of disorders characterized by recurrent and unpredictable seizures. Of these cases roughly one-third are refractory to current antiepileptic drugs, which typically target neuronal excitability directly. The events leading to seizure generation and epileptogenesis remain largely unknown, hindering development of new treatments. Some recent experimental models of epilepsy have provided compelling evidence that glial cells, especially astrocytes, could be central to seizure development...
April 21, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28438504/agomelatine-protects-against-neuronal-damage-without-preventing-epileptogenesis-in-the-kainate-model-of-temporal-lobe-epilepsy
#20
Jana Tchekalarova, Dimitrinka Atanasova, Zlatina Nenchovska, Milena Atanasova, Lidia Kortenska, Rumyana Gesheva, Nikolai Lazarov
Recent studies about the novel antidepressant agomelatine, which is a mixed MT1 and MT2 melatonin receptor agonist and 5HT2C serotonin receptor antagonist possessing an anticonvulsant and neuroprotective action, suggest that it may have potential to contribute against epileptogenesis and epilepsy-induced memory impairment. In order to ascertain whether protection of some brain structures could suppress epileptogenesis, in the present study, we evaluated the effect of chronic post-status treatment with agomelatine on epileptogenesis, behavioral and neuronal damage induced by kainate acid (KA) status epilepticus (SE)...
April 21, 2017: Neurobiology of Disease
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