The frequency of intractable seizures after stopping AEDs in seizure-free children with epilepsy.

abstract：OBJECTIVE:To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. METHODS:We performed massive parallel sequencing of GABRB3 in 416 patient...

journal_title：Neurology

authors： Møller RS,Wuttke TV,Helbig I,Marini C,Johannesen KM,Brilstra EH,Vaher U,Borggraefe I,Talvik I,Talvik T,Kluger G,Francois LL,Lesca G,de Bellescize J,Blichfeldt S,Chatron N,Holert N,Jacobs J,Swinkels M,Betzler C,Syr

更新日期：2017-01-31 00:00:00

abstract：:Significant evidence has accrued suggesting that antibodies to voltage-gated calcium channel are observed in at least some patients with sporadic ALS (SALS) and that such antibodies alter the function of these ion channels in vitro and in vivo. Further, passive transfer of these immunoglobulin-containing fractions int...

journal_title：Neurology

authors： Smith RG,Siklos L,Alexianu ME,Engelhardt JI,Mosier DR,Colom L,Habib Mohamed A,Appel SH

更新日期：1996-10-01 00:00:00

abstract：BACKGROUND:Patients with Alzheimer's disease (AD) and many older adults become lost even in familiar surroundings. This is commonly attributed to memory impairment, but it may reflect impaired spatial cognition. METHODS:The authors examined the role of memory, perceptual, and cognitive mechanisms in spatial disorienta...

journal_title：Neurology

authors： Monacelli AM,Cushman LA,Kavcic V,Duffy CJ

更新日期：2003-12-09 00:00:00

abstract：BACKGROUND:Expert knowledge may compensate for age-related declines in basic cognitive and sensory-motor abilities in some skill domains. We investigated the influence of age and aviation expertise (indexed by Federal Aviation Administration pilot ratings) on longitudinal flight simulator performance. METHODS:Over a 3...

journal_title：Neurology

authors： Taylor JL,Kennedy Q,Noda A,Yesavage JA

更新日期：2007-02-27 00:00:00

abstract：:The position of the auditory pathways in the human corpus callosum has not been defined by modern imaging techniques. We report a case with a discrete hemorrhagic lesion in the posterior body of the corpus callosum. The only signs of disturbed callosal function were limited to the auditory system--suppression of left ...

journal_title：Neurology

authors： Alexander MP,Warren RL

更新日期：1988-05-01 00:00:00

abstract：:Supporting young people with pediatric multiple sclerosis can be challenging for families and health care providers. Adolescents may be more resilient than adults in reaction to the diagnosis but can have more difficulty planning for their futures. Appropriate, sensitive, and focused health provision should include co...

journal_title：Neurology

authors： Krupp LB,Rintell D,Charvet LE,Milazzo M,Wassmer E

更新日期：2016-08-30 00:00:00

abstract：OBJECTIVE:To evaluate interictal, circulating sphingolipids in women migraineurs. METHODS:In the fasting state, serum samples were obtained pain-free from 88 women with episodic migraine (EM; n=52) and from controls (n=36). Sphingolipids were detected and quantified by high-performance liquid chromatography coupled wi...

journal_title：Neurology

authors： Peterlin BL,Mielke MM,Dickens AM,Chatterjee S,Dash P,Alexander G,Vieira RV,Bandaru VV,Dorskind JM,Tietjen GE,Haughey NH

更新日期：2015-10-06 00:00:00

abstract：OBJECTIVE:To provide a comprehensive understanding of APOE ε4 effects across the lifespan on the 3 main neuroimaging biomarkers. METHODS:Two hundred seven community-dwelling, cognitively normal APOE ε4 carriers and noncarriers aged 20-87 years were involved in this study. They underwent structural MRI, fluorodeoxygluc...

journal_title：Neurology

authors： Gonneaud J,Arenaza-Urquijo EM,Fouquet M,Perrotin A,Fradin S,de La Sayette V,Eustache F,Chételat G

更新日期：2016-10-18 00:00:00

abstract：:We reviewed the historical features, preoperative diagnostic evaluation, operative procedure, and surgical outcome in 16 patients with refractory frontal lobe epilepsy. Clinical expression of the epilepsy varied widely, particularly with respect to seizure characteristics, although high monthly seizure frequency and a...

journal_title：Neurology

authors： Laskowitz DT,Sperling MR,French JA,O'Connor MJ

更新日期：1995-04-01 00:00:00

abstract：:The authors evaluated four patients with schizencephaly who underwent subtraction ictal SPECT coregistered to MRI (SISCOM) prior to epilepsy surgery. Three patients had a SISCOM alteration that was concordant with the epileptic brain tissue. Two of these patients were rendered seizure-free and one individual experienc...

journal_title：Neurology

authors： Cascino GD,Buchhalter JR,Sirven JI,So EL,Drazkowski JF,Zimmerman RS,Raffel C

更新日期：2004-12-28 00:00:00

abstract：OBJECTIVE:To test the hypothesis that physical activity modifies the association between white matter hyperintensity (WMH) burden and motor function in healthy older persons without dementia. METHODS:Total daily activity (exercise and nonexercise physical activity) was measured for up to 11 days with actigraphy (Actic...

journal_title：Neurology

authors： Fleischman DA,Yang J,Arfanakis K,Arvanitakis Z,Leurgans SE,Turner AD,Barnes LL,Bennett DA,Buchman AS

更新日期：2015-03-31 00:00:00

abstract：:Patients, clinicians, and hospitals have undergone monumental changes during the coronavirus disease 2019 (COVID-19) pandemic. This crisis has forced us to consider the obligations that we neurologists have to our individual patients as well as the greater community. By returning to our fundamental understanding of th...

journal_title：Neurology

authors： Rubin MA,Bonnie RJ,Epstein L,Hemphill C,Kirschen M,Lewis A,Suarez JI,Ethics, Law, and Humanities Committee, a joint committee of the American Academy of Neurology, American Neurological Association, and Child Neurology Society; in collabor

更新日期：2020-07-28 00:00:00

abstract：OBJECTIVE:To study the presenting features and value of routine diagnostic procedures in patients with leptomeningeal metastases (LMM) related to the primary malignancy to improve diagnostic assessment. METHODS:The authors studied the presenting features and value of routine diagnostic procedures in relation to the hi...

journal_title：Neurology

authors： van Oostenbrugge RJ,Twijnstra A

更新日期：1999-07-22 00:00:00

abstract：:Two adult brothers became ill within 48 hours of each other, and both had severe myoglobinuria. One brother died of oliguric renal failure. The other did not have renal failure and survived. Acute influenza A infection was documented serologically and from throat washings in the surviving brother, and by isolation of ...

journal_title：Neurology

authors： Zamkoff K,Rosen N

更新日期：1979-03-01 00:00:00

abstract：:Hypohidrosis predisposes to hyperthermia and may indicate generalized thermoregulatory failure. To assess the sweating capacity in human poikilothermia, we performed a quantitative analysis of the central and peripheral sudomotor pathways in four women with acquired poikilothermia (aged 29 to 38 years) and nine contro...

journal_title：Neurology

authors： MacKenzie MA,Schönbaum E,Hermus AR,Wollersheim HC,Thien T,Smals AG,Kloppenborg PW

更新日期：1995-08-01 00:00:00

abstract：:Previous research has shown that the Mini-Mental State Examination (MMS) is biased as a measure of cognitive impairment in minority and low-education patients. The purpose of this study was to (1) develop a statistical correction for effects of age and education and (2) test the efficacy of the statistically adjusted ...

journal_title：Neurology

authors： Mungas D,Marshall SC,Weldon M,Haan M,Reed BR

更新日期：1996-03-01 00:00:00

abstract：:We evaluated the relationship between mesial temporal seizure focus and serum prolactin (PRL) in patients before and after they underwent anterior temporal lobectomy (ATL) for medically intractable temporal lobe epilepsy (TLE). These patients had a confirmed unilateral epileptogenic focus in mesial temporal structures...

journal_title：Neurology

authors： Lin YY,Su MS,Yiu CH,Shih YH,Yen DJ,Kwan SY,Wu ZA,Chan SH

更新日期：1997-08-01 00:00:00

abstract：OBJECTIVE:To update the 1997 American Academy of Neurology (AAN) practice parameter regarding sports concussion, focusing on 4 questions: 1) What factors increase/decrease concussion risk? 2) What diagnostic tools identify those with concussion and those at increased risk for severe/prolonged early impairments, neurolo...

journal_title：Neurology

authors： Giza CC,Kutcher JS,Ashwal S,Barth J,Getchius TS,Gioia GA,Gronseth GS,Guskiewicz K,Mandel S,Manley G,McKeag DB,Thurman DJ,Zafonte R

更新日期：2013-06-11 00:00:00

abstract：OBJECTIVE:To validate the Narcolepsy Severity Scale (NSS), a brief clinical instrument to evaluate the severity and consequences of symptoms in patients with narcolepsy type 1 (NT1). METHODS:A 15-item scale to assess the frequency and severity of excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, slee...

journal_title：Neurology

authors： Dauvilliers Y,Beziat S,Pesenti C,Lopez R,Barateau L,Carlander B,Luca G,Tafti M,Morin CM,Billiard M,Jaussent I

更新日期：2017-04-04 00:00:00

abstract：:Three sisters with adult fucosidosis showed prominent psychomotor retardation, gargoyle features, and angiokeratoma corporis diffusum, meeting the criteria for type II fucosidosis. By histochemical and ultrastructural studies, biopsy of rectal mucosa revealed many abnormal macrophages that were filled with fucose-rich...

journal_title：Neurology

authors： Ikeda S,Kondo K,Oguchi K,Yanagisawa N,Horigome R,Murata F

更新日期：1984-04-01 00:00:00

abstract：OBJECTIVE:To study activin signaling and its blockade in sporadic inclusion body myositis (sIBM) through translational studies and a randomized controlled trial. METHODS:We measured transforming growth factor β signaling by SMAD2/3 phosphorylation in muscle biopsies of 50 patients with neuromuscular disease (17 with s...

journal_title：Neurology

authors： Amato AA,Sivakumar K,Goyal N,David WS,Salajegheh M,Praestgaard J,Lach-Trifilieff E,Trendelenburg AU,Laurent D,Glass DJ,Roubenoff R,Tseng BS,Greenberg SA

更新日期：2014-12-09 00:00:00

abstract：:The authors identified a novel mtDNA mutation (T9176G) in the ATPase 6 gene in a family in which a 10-year-old girl had a severe neurodegenerative disorder, her elder sister had died of Leigh syndrome (LS), and a maternal uncle had a spinocerebellar disorder. Biochemical studies disclosed a reduced rate of ATP synthes...

journal_title：Neurology

authors： Carrozzo R,Tessa A,Vázquez-Memije ME,Piemonte F,Patrono C,Malandrini A,Dionisi-Vici C,Vilarinho L,Villanova M,Schägger H,Federico A,Bertini E,Santorelli FM

更新日期：2001-03-13 00:00:00

abstract：:Cross-sectional studies have not adequately resolved the question of whether subjects infected with HIV-1 may suffer cognitive decline during the early, asymptomatic stages of the infection. We studied longitudinally 238 asymptomatic healthy HIV-1-infected homosexual/bisexual men (CDC groups 2 and 3) and 170 uninfecte...

journal_title：Neurology

authors： Selnes OA,Miller E,McArthur J,Gordon B,Muñoz A,Sheridan K,Fox R,Saah AJ

更新日期：1990-02-01 00:00:00

abstract：:Study of diagnostic practice is necessary to optimize neurologists' clinical performance and ensure patient safety. To our knowledge, this report is the first set of systematic observations of diagnostic practices of community neurologists in their clinics. The study consisted of six 2-week periods of in situ observat...

journal_title：Neurology

authors： Dhand A,Engstrom J,Dhaliwal G

更新日期：2013-10-15 00:00:00

abstract：OBJECTIVE:In the work-up of patients presenting with a clinically isolated syndrome (CIS), 3T MRI might offer a higher lesion detection than 1.5T, but it remains unclear whether this affects the fulfilment of the diagnostic criteria for multiple sclerosis (MS). METHODS:We recruited 66 patients with CIS within 6 months...

journal_title：Neurology

authors： Hagens MHJ,Burggraaff J,Kilsdonk ID,de Vos ML,Cawley N,Sbardella E,Andelova M,Amann M,Lieb JM,Pantano P,Lissenberg-Witte BI,Killestein J,Oreja-Guevara C,Ciccarelli O,Gasperini C,Lukas C,Wattjes MP,Barkhof F,MAGNIMS St

更新日期：2018-07-17 00:00:00

abstract：BACKGROUND:Pregnancy registries for women taking anticonvulsant drugs have been developed to determine more efficiently the fetal risks of each drug. A total of 722 drug-exposed pregnancies are needed to identify a sevenfold increase in the rate of occurrence of a specific abnormality, such as spina bifida, with a freq...

journal_title：Neurology

authors： Holmes LB,Baldwin EJ,Smith CR,Habecker E,Glassman L,Wong SL,Wyszynski DF

更新日期：2008-05-27 00:00:00

abstract：:Behavioral psychophysical techniques were used to obtain strength-duration curves for the ulnar nerve at both threshold and suprathreshold levels. The functions well match those obtained with electrophysiologic procedures, but overcome many of the difficulities associated with traditional electrodiagnosis. An alternat...

journal_title：Neurology

authors： Rollman GB

更新日期：1975-04-01 00:00:00

abstract：OBJECTIVE:To evaluate the predictive utility of self-reported and informant-reported functional deficits in patients with mild cognitive impairment (MCI) for the follow-up diagnosis of probable AD. METHODS:The Pfeffer Functional Activities Questionnaire (FAQ) and Lawton Instrumental Activities of Daily Living (IADL) S...

journal_title：Neurology

authors： Tabert MH,Albert SM,Borukhova-Milov L,Camacho Y,Pelton G,Liu X,Stern Y,Devanand DP

更新日期：2002-03-12 00:00:00

abstract：:About 9% of patients presenting to a Huntington disease (HD) clinic for evaluation of possible HD lacked a family history of the disorder. HD was the final diagnosis in 53 to 83% of these patients. As a group, HD-affected individuals without a family history of HD were older and had fewer CAG repeats than the average ...

journal_title：Neurology

authors： Nance MA,Westphal B,Nugent S

更新日期：1996-12-01 00:00:00

abstract：:A group of 204 muscular dystrophy patients were screened for immunohistochemical and biochemical alpha-sarcoglycan defect and their DNA was analyzed for pathogenetic mutation in the four sarcoglycan genes. We identified 21 patients with alpha-, beta-, or gamma-sarcoglycan gene mutations. Patients with alpha-sarcoglyca...

journal_title：Neurology

authors： Angelini C,Fanin M,Freda MP,Duggan DJ,Siciliano G,Hoffman EP

更新日期：1999-01-01 00:00:00