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Predictors of outcome in childhood Plasmodium falciparum malaria.

Harsita Patel, Claire Dunican, Aubrey J Cunnington,

Plasmodium falciparum malaria is classified as either uncomplicated or severe, determining clinical management and providing a framework for understanding pathogenesis. Severe malaria in children is defined by the presence of one or more features associated with adverse outcome, but there is wide variation in the predictive value of these features. ... Read more >>

Virulence (Virulence)
[2020, 11(1):199-221]

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Electroencephalogram studies of hypoxic ischemia in fetal and neonatal animal models.

Hamid Abbasi, Charles P Unsworth,

Alongside clinical achievements, experiments conducted on animal models (including primate or non-primate) have been effective in the understanding of various pathophysiological aspects of perinatal hypoxic/ischemic encephalopathy (HIE). Due to the reasonably fair degree of flexibility with experiments, most of the research around HIE in the literature has been largely concerned ... Read more >>

Neural Regen Res (Neural regeneration research)
[2020, 15(5):828-837]

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Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.

Eu Jeen Yang, Kyung Mi Park, Yoo-Mi Kim, Ki Sun Jung, Young Tak Lim, Chong Kun Cheon,

May-Hegglin anomaly (MHA) is a rare autosomal dominant disorder caused by a mutation in the myosin heavy chain 9 (MYH9) gene. MHA patients have variable clinical manifestations including thrombocytopenia, renal injury, hearing impairment, and cataracts. We describe a 25-year-old man with isolated thrombocytopenia initially. He experienced recurrent seizures with stable ... Read more >>

J. Pediatr. Hematol. Oncol. (Journal of pediatric hematology/oncology)
[2020, 42(3):e188-e192]

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CLN3 regulates endosomal function by modulating Rab7A-effector interactions.

Seda Yasa, Graziana Modica, Etienne Sauvageau, Abuzar Kaleem, Guido Hermey, Stephane Lefrancois,

Mutations in CLN3 are a cause of juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease. Clinical manifestations include cognitive regression, progressive loss of vision and motor function, epileptic seizures and a significantly reduced lifespan. CLN3 localizes to endosomes and lysosomes, and has been implicated in intracellular trafficking and ... Read more >>

J. Cell. Sci. (Journal of cell science)
[2020, 133(6):]

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Radiprodil, a NR2B negative allosteric modulator, from bench to bedside in infantile spasm syndrome.

Stéphane Auvin, Blandine Dozières-Puyravel, Andreja Avbersek, David Sciberras, Jo Collier, Karine Leclercq, Pavel Mares, Rafal M Kaminski, Pierandrea Muglia,

OBJECTIVE:Infantile spasm syndrome (ISS) is an epileptic encephalopathy without established treatment after the failure to standard of care based on steroids and vigabatrin. Converging lines of evidence indicating a role of NR2B subunits of the N-methyl-D-aspartate (NMDA) receptor on the onset of spams in ISS patients, prompted us to test ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, 7(3):343-352]

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Predictors of Nonconvulsive Seizure and Their Effect on Short-term Outcome.

Jaysingh Singh, Gaurav Thakur, Jonathan Alexander, Appaji Rayi, Juan Peng, William Bell, Jeffrey Britton,

INTRODUCTION:Nonconvulsive seizures (NCSs) are common in critically ill adult patients with acute neurologic conditions. However, the effect of NCSs on patient outcome remains unclear. In this study, we aimed to determine the effect of NCSs on short-term outcome and to assess the clinical and EEG factors associated with NCSs. METHODS:We ... Read more >>

J Clin Neurophysiol (Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society)
[2020, :]

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Short-term risk of relapse after a first unprovoked seizure in an adult population.

Walid Alesefir, Louis Maillard, Irina Klemina, Jean-Pierre Vignal, Louise Tyvaert,

OBJECTIVE:To evaluate the incidence of short-term recurrence (<1 month) after a first unprovoked seizure (FUS) and the associated risk factors. METHODS:This is a prospective monocentric one-year observational study on all consecutive adult patients admitted to the Emergency Department (ED) and diagnosed as FUS. Patients underwent neurological consultation at one and ... Read more >>

Neurophysiol Clin (Neurophysiologie clinique = Clinical neurophysiology)
[2020, :]

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Lamotrigine add-on therapy for drug-resistant focal epilepsy.

Mariangela Panebianco, Rebecca Bresnahan, Sridharan Ramaratnam, Anthony G Marson,

BACKGROUND:This is an updated version of the Cochrane Review previously published in 2016. Epilepsy is a common neurological disorder, affecting 0.5% to 1% of the population. For nearly 30% of these people, their epilepsy is resistant to currently available drugs. Pharmacological treatment remains the first choice to control epilepsy. Lamotrigine ... Read more >>

Cochrane Database Syst Rev (The Cochrane database of systematic reviews)
[2020, 3:CD001909]

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TTTCA Repeat Expansion of SAMD12 in a New Benign Adult Familial Myoclonic Epilepsy Pedigree.

Chaorong Liu, Yanmin Song, Ying Yuan, Ying Peng, Nan Pang, Ranhui Duan, Wen Huang, Xuehui Qin, Wenbiao Xiao, Hongyu Long, Sha Huang, Pinting Zhou, Lili Long, Bo Xiao,

Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant disorder characterized by adult-onset cortical myoclonus with or without seizures. Recently, it was reported to be associated with intronic TTTTA/TTTCA expansions. To investigate whether these abnormal expansions are involved in our new pedigree from China, whole exome sequencing (WES) and ... Read more >>

Front Neurol (Frontiers in Neurology)
[2020, 11:68]

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Chemical meningitis in children as a risk factor following craniopharyngioma resection - a case report.

Magdalena Chrościńska-Krawczyk, Ewa Zienkiewicz, Arkadiusz Podkowiński, Maria Klatka,

BACKGROUND:Craniopharyngiomas are defined by the WHO as "benign" tumours, but their location and surgical treatment may be associated with major complications, one being chemical meningitis. Although rare, especially in children, it should be taken into account when worrying symptoms appear after surgery. CASE PRESENTATION:The aim of this study is to ... Read more >>

BMC Neurol (BMC neurology)
[2020, 20(1):56]

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Cognitive functioning in new-onset juvenile myoclonic epilepsy.

Maria Raatikainen, Reetta Kälviäinen, Leena Jutila, Marja Äikiä,

PURPOSE:Juvenile myoclonic epilepsy (JME) is a common genetic generalized epilepsy syndrome. Adult patients with JME have shown a neuropsychological profile suggestive of subtle frontal dysfunction, but studies of cognitive functioning in the early phases of JME are rare. We analyzed the cognitive performance data of 18 patients who had undergone ... Read more >>

Epilepsy Behav (Epilepsy & behavior : E&B)
[2020, 106:107015]

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Electro-clinical and neurodevelopmental outcome in six children with early diagnosis of tuberous sclerosis complex and role of the genetic background.

M N Savini, A Mingarelli, A Peron, F La Briola, F Cervi, R M Alfano, M P Canevini, A Vignoli,

BACKGROUND:Seizures in individuals affected by tuberous sclerosis complex (TSC) commonly develop in the first year of life, are often preceded by a progressive deterioration of the electroencephalogram (EEG), and likely influence developmental outcome. Although early diagnosis of TSC has offered a tremendous opportunity to monitor affected patients before seizure onset, ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2020, 46(1):36]

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Postoperative cardiorespiratory arrest in a case of cervical meningocele.

R. Sriharsha, Ketan K. Kataria, Shyam Meena, Kiran Jangra, Summit Bloria,

Background:Meningoceles are congenital herniation of meninges and cerebrospinal fluid (CSF) through the skull and are bereft of any cerebral tissue. They are commonly found over the anterior fontanelle. Although some cases of cervical dysraphism have been described in the literature, a true meningocele has rarely been seen. The child usually ... Read more >>

Surg Neurol Int (Surgical Neurology International)
[2020, 11:]

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[Prognosis analysis of 112 cases with Japanese encephalitis in adults].

T H Wang, J Chen, G X Wang, X Lin, L J Bao, Y M Zhao, Y Q Gu, N Liu,

Objective: To analyze the improvement of clinical symptoms and recovery of neurological function in adult Japanese encephalitis, and study the prognostic factors. Methods: Follow-up was conducted for 112 hospitalized patients with Japanese encephalitis (JE) in adults at the Department of Neurology of three hospitals in Gansu province from July to ... Read more >>

Zhonghua Yi Xue Za Zhi (Zhonghua yi xue za zhi)
[2020, 100(7):541-545]

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Update on Drug Management of Refractory Epilepsy in Tuberous Sclerosis Complex.

Emma van der Poest Clement, Floor E Jansen, Kees P J Braun, Jurriaan M Peters,

Tuberous sclerosis complex (TSC) is a genetic neurocutaneous disorder with epilepsy as a common and early presenting symptom. The neurological phenotype, however, is variable and unpredictable. Early and refractory seizures, infantile spasms in particular, are associated with a poor neurological outcome. Preliminary data suggests early and aggressive seizure control may ... Read more >>

Paediatr Drugs (Paediatric drugs)
[2020, 22(1):73-84]

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Pharmacokinetic and pharmacodynamic modeling of levetiracetam: investigation of factors affecting the clinical outcome.

Eleni Karatza, Sophia L Markantonis, Andria Savvidou, Anastasia Verentzioti, Anna Siatouni, Athanasia Alexoudi, Stylianos Gatzonis, Evgenia Mavrokefalou, Vangelis Karalis,

This study aimed to evaluate the pharmacokinetics and pharmacodynamics of oral levetiracetam therapy in drug refractory adult epileptic outpatients, as well as factors affecting them. Concentration-time data were collected at steady state, while seizure recurrence was monitored for 13 months. Non-linear mixed effects modeling was applied, and covariates assessed included ... Read more >>

Xenobiotica (Xenobiotica; the fate of foreign compounds in biological systems)
[2020, :1-11]

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Nonconvulsive status epilepticus in the elderly.

S Dupont, K Kinugawa,

There is a higher incidence of status epilepticus in the older adult population that commonly presents as nonconvulsive status epilepticus (NCSE). NCSE most often corresponds to prolonged focal seizures with impaired consciousness with three main clinical presentations: i) an unexplained acute confusional state, ii) subtle eye, motor or behavioral signs ... Read more >>

Rev. Neurol. (Paris) (Revue neurologique)
[2020, :]

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Sudden Death Due to Calcifying Pseudoneoplasm of the Neuraxis: A Case Report and a Review of Sudden Death Due to Undiagnosed Central Nervous System Mass Lesions.

Kyle S Conway, Jeffrey Jentzen, Drew Pratt, Sandra Camelo-Piragua,

We present a case of a 22-year-old man who died unexpectedly after a seizure due to a previously undiagnosed calcifying pseudoneoplasm of the neuraxis (CAPNON). Calcifying pseudoneoplasm of the neuraxis is a rare entity, and this is, to our knowledge, the first described case of sudden death due to CAPNON. ... Read more >>

Am J Forensic Med Pathol (The American journal of forensic medicine and pathology)
[2020, 41(1):70-74]

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Investigatory pathway and principles of patient selection for epilepsy surgery candidates: a systematic review.

Arash Ghaffari-Rafi, Jose Leon-Rojas,

BACKGROUND:The predominant treatment for epilepsy is pharmacotherapy, yet 20-40% do not respond to anti-epileptic drugs. After becoming pharmacoresistant, some patients are worked-up to determine candidacy for epilepsy surgery. Despite the 2009 American Epilepsy Society guidelines, there is no broadly accepted criteria for the investigatory pathway and principles of patient selection ... Read more >>

BMC Neurol (BMC neurology)
[2020, 20(1):100]

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New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.

Rebecca M Pollak, Michael C Zinsmeister, Melissa M Murphy, Michael E Zwick, , Jennifer G Mulle,

3q29 duplication syndrome (3q29dup) is a rare genomic disorder caused by a 1.6 Mb duplication (GRCh38 chr3:195,998,000-197,623,000). Case reports indicate the 3q29dup is likely to be pathogenic, but the full range of manifestations is not well understood. We used the 3q29 registry (https://3q29.com) to ascertain 31 individuals with 3q29dup, the ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, :]

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Cryptococcal meningitis and immune reconstitution inflammatory syndrome in a pediatric patient with HIV after switching to second line antiretroviral therapy: a case report.

Ssegujja Boniface Joseph Otto, Paul E George, Rebecca Mercedes, Nicolette Nabukeera-Barungi,

BACKGROUND:Cryptococcal meningitis (CCM) is a common and deadly disease among HIV-infected patients. Notable about CCM is its association with the immune reconstitution inflammatory syndrome (IRIS). Though it has been posited a switch from first to second-line antiretroviral therapy (ART) can induce CCM IRIS, a case presentation of CCM IRIS has ... Read more >>

BMC Infect. Dis. (BMC infectious diseases)
[2020, 20(1):68]

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New-onset seizures in adults with tuberculous meningitis during long-term follow-up: Characteristics, functional outcomes and risk factors.

Xiaosong Song, Lan Wen, Maolin Li, Xinyuan Yu, Lijun Wang, Kunyi Li,

OBJECTIVE:This study aimed to determine the characteristics and risk factors of adult new-onset seizure patients with tuberculous meningitis (TBM) during long-term follow-up. METHODS:Patients with TBM who were seen between June 2012 and January 2018 were retrospectively reviewed and categorized into two groups based on the presence or absence of new-onset ... Read more >>

Int. J. Infect. Dis. (International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases)
[2020, 93:258-263]

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Evaluation of zonisamide for the treatment of focal epilepsy: a review of pharmacokinetics, clinical efficacy and adverse effects.

Slobodan M Janković,

Introduction: Zonisamide is a benzisoxazole with 3-methanesulfonamide side chain, chemically unrelated with other anticonvulsants, and approved as mono-therapy of newly diagnosed focal epilepsy with or without secondary generalization in adults or adjunctive therapy in the treatment of partial seizures, with or without secondary generalization, in adults, adolescents, and children aged ... Read more >>

Expert Opin Drug Metab Toxicol (Expert opinion on drug metabolism & toxicology)
[2020, 16(3):169-177]

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Low-grade developmental and epilepsy associated brain tumors: a critical update 2020.

Rutger Juriaan Slegers, Ingmar Blumcke,

Brain tumors represent the second most frequent etiology in patients with focal seizure onset before 18 years of age and submitted to epilepsy surgery. Hence, this category of brain tumors, herein defined as low-grade, developmental, epilepsy-associated brain tumors (LEAT) is different from those frequently encountered in adults as (A): 77% of ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2020, 8(1):27]

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Epilepsy in immigrants and Swedish-born: A cohort study of all adults 18 years of age and older in Sweden.

Per Wändell, Sten Fredrikson, Axel C Carlsson, Xinjun Li, Danijela Gasevic, Jan Sundquist, Kristina Sundquist,

PURPOSE:We aimed to study the association between country of birth and incident epilepsy in several immigrant groups using Swedish-born individuals as referents. METHOD:The study population included all adults aged 18 years and older in Sweden, living and deceased, 6,690,598 in the first-generation and 6,683,125 in the second-generation sub-study. Epilepsy was ... Read more >>

Seizure (Seizure)
[2020, 76:116-122]

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