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https://www.readbyqxmd.com/read/28633043/de-novo-12q22-q23-3-duplication-associated-with-temporal-lobe-epilepsy
#1
Maria Stella Vari, Monica Traverso, Tommaso Bellini, Francesca Madia, Francesca Pinto, Carlo Minetti, Pasquale Striano, Federico Zara
PURPOSE: Temporal lobe epilepsy (TLE) is the most common form of focal epilepsy and may be associated with acquired central nervous system lesions or could be genetic. Various susceptibility genes and environmental factors are believed to be involved in the aetiology of TLE, which is considered to be a heterogeneous, polygenic, and complex disorder. Rare point mutations in LGI1, DEPDC5, and RELN as well as some copy number variations (CNVs) have been reported in families with TLE patients...
June 15, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28628235/expanded-phenotypes-and-outcomes-among-256-lgi1-caspr2-igg-positive-patients
#2
Avi Gadoth, Sean J Pittock, Divyanshu Dubey, Andrew McKeon, Jeff W Britton, John E Schmeling, Aurelia Smith, Amy L Kotsenas, Robert E Watson, Daniel H Lachance, Eoin P Flanagan, Vanda A Lennon, Christopher J Klein
OBJECTIVE: To describe an expanded phenotypic spectrum and longitudinal outcome in 256 LGI1-IgG or CASPR2-IgG seropositive patients. METHODS: Patients were identified through service neural autoantibody evaluation. Ninety-five had longitudinal follow-up (7-456 months; median 35). RESULTS: Among 3,910 patients tested, 196 were LGI1-IgG-positive; 51 were CASPR2-IgG-positive and 9 were dual-positive. CSF-testing was less sensitive than serum-testing, detecting only 24/38 LGI1-IgG-positive (63%) and 5/6 CASPR2-IgG-positive (83%)...
June 19, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28586706/lgi1-antibody-encephalitis-is-characterised-by-frequent-multifocal-clinical-and-subclinical-seizures
#3
Sidra Aurangzeb, Mkael Symmonds, Ravi K Knight, Robin Kennett, Tim Wehner, Sarosh R Irani
PURPOSE: To describe clinical and electrographic characteristics of seizures LGI1-antibody encephalitis, and their correlations with two-year outcomes. METHODS: Video-electroencephalography recordings were performed on a cohort of 16 consecutive patients with LGI1-antibodies from two UK neuroscience-centers over five-years. RESULTS: From 14 of 16 patients (13 males; age-range 53-92years), 86 faciobrachial dystonic seizures were recorded at a median frequency of 0...
May 30, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28566186/detection-of-lgi1-and-caspr2-antibodies-with-a-commercial-cell-based-assay-in-patients-with-very-high-vgkc-complex-antibody-levels
#4
T Yeo, Z Chen, J Y H Chai, K Tan
BACKGROUND: The presence of VGKC-complex antibodies, without LGI1/CASPR2 antibodies, as a standalone marker for neurological autoimmunity remains controversial. Additionally, the lack of an unequivocal VGKC-complex antibody cut-off level defining neurological autoimmunity makes it important to test for monospecific antibodies. We aim to determine the performance characteristics of a commercial assay (Euroimmun, Lübeck, Germany) for LGI1/CASPR2 antibody detection in patients with very high VGKC-complex antibody levels and report their clinico-serological associations...
July 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28544133/autoimmune-encephalitis-associated-with-voltage-gated-potassium-channels-complex-and-leucine-rich-glioma-inactivated-1-antibodies-a-national-cohort-study
#5
M Celicanin, M Blaabjerg, C Maersk-Moller, S Beniczky, L Marner, C Thomsen, F W Bach, D Kondziella, H Andersen, F Somnier, Z Illes, L H Pinborg
BACKGROUND AND PURPOSE: The aim of this study was to describe clinical and paraclinical characteristics of all Danish patients who tested positive for anti-voltage-gated potassium channels (VGKC)-complex, anti-leucine-rich glioma-inactivated 1 (LGI1) and anti-contactin-associated protein-2 antibodies in the serum/cerebrospinal fluid between 2009 and 2013 with follow-up interviews in 2015 and 2016. METHODS: We evaluated antibody status, symptoms leading to testing, course of disease, suspected diagnosis and time of admission as well as diagnosis and treatment...
May 25, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28482428/-clinical-analysis-of-9-cases-with-anti-leucine-rich-glioma-inactivated-1-protein-antibody-associated-limbic-encephalitis
#6
Y X Zhang, H L Yang, Y Y Wu, C C Wang, X Y Gao, Y Y Shi, H Q Liu, Y Huang, J W Zhang
Objective: This study was to describe the clinical characteristics of Anti-leucine-rich glioma inactivated 1 protein(LGI1) antibody associated limbic encephalitis. Methods: Clinical data including clinical features, laboratory and radiological findings, treatment and prognosis of the 9 patients were analyzed. Results: In all 9 cases, 6 cases experienced epileptic seizure, 5 cases had psychosis, 7 cases presented with memory impairment, 4 cases showed faciobrachial dystonic seizure, 2 had refractory hyponatremia...
May 9, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28476644/autoantibody-mediated-diseases-of-the-cns-structure-dysfunction-and-therapy
#7
REVIEW
James Varley, Jennifer Taylor, Sarosh R Irani
The field of neuronal autoantibody associated diseases of the central nervous system has expanded dramatically in the last few years. The range of identified neuronal and glial antibody targets has led to the accurate classification of a number of syndromes which each associate with characteristic clinical features. These diseases are especially important due to their frequent response to immunotherapies. Antibodies against the N-methyl, d-aspartate receptor (NMDAR) and leucine-rich glioma inactivated 1 (LGI1) are the commonest autoantibodies known in patients with autoimmune forms of encephalitis...
May 3, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28473998/ivig-treatment-for-repeated-hypothermic-attacks-associated-with-lgi1-antibody-encephalitis
#8
Yuichi Hayashi, Megumi Yamada, Akio Kimura, Takashi Inuzuka
No abstract text is available yet for this article.
July 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28432047/delayed-lgi1-seropositivity-in-voltage-gated-potassium-channel-vgkc-complex-antibody-limbic-encephalitis
#9
Michael Sweeney, Jonathan Galli, Scott McNally, Anne Tebo, Thomas Haven, Perla Thulin, Stacey L Clardy
We utilise a clinical case to highlight why exclusion of voltage-gated potassium channel (VGKC)-complex autoantibody testing in serological evaluation of patients may delay or miss the diagnosis. A 68-year-old man presented with increasing involuntary movements consistent with faciobrachial dystonic seizures (FBDS). Initial evaluation demonstrated VGKC antibody seropositivity with leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein-like 2 (CASPR2) seronegativity. Aggressive immunotherapy with methylprednisolone and plasmapheresis was started early in the course of his presentation...
April 20, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28431605/global-brain-atrophy-and-metabolic-dysfunction-in-lgi1-encephalitis-a-prospective-multimodal-mri-study
#10
Monika Szots, Morten Blaabjerg, Gergely Orsi, Pernille Iversen, Daniel Kondziella, Camilla G Madsen, Ellen Garde, Peter O Magnusson, Peter Barsi, Ferenc Nagy, Hartwig R Siebner, Zsolt Illes
BACKGROUND: Chronic cognitive deficits are frequent in leucin-rich glioma-inactivated 1 protein (LGI1) encephalitis. We examined structural and metabolic brain abnormalities following LGI1 encephalitis and correlated findings with acute and follow-up clinical outcomes. METHODS: Nine patients underwent prospective multimodal 3 Tesla MRI 33.1±18months after disease onset, including automated volumetry, diffusion tensor imaging (DTI) and magnetic resonance spectroscopy (MRS)...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28418022/the-value-of-lgi1-caspr2-and-voltage-gated-potassium-channel-antibodies-in-encephalitis
#11
REVIEW
Agnes van Sonderen, Mar Petit-Pedrol, Josep Dalmau, Maarten J Titulaer
The discovery, in 2010, of autoantibodies against the extracellular proteins LGI1 and Caspr2 facilitated a change of view regarding the clinical importance of voltage-gated potassium channel (VGKC) antibodies. Currently, these antibodies are all classified as VGKC-complex antibodies, and are commonly considered to have a similar clinical value. However, studies from the past few years show that the immune responses mediated by these antibodies have differing clinical relevance. Here, we review the clinical importance of these immune responses in three settings: patients with anti-LGI1 antibodies, patients with anti-Caspr2 antibodies, and patients with antibodies against the VGKC complex that lack LGI1 and Caspr2 specificity...
April 18, 2017: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/28369215/focal-ca3-hippocampal-subfield-atrophy-following-lgi1-vgkc-complex-antibody-limbic-encephalitis
#12
Thomas D Miller, Trevor T-J Chong, Anne M Aimola Davies, Tammy W C Ng, Michael R Johnson, Sarosh R Irani, Angela Vincent, Masud Husain, Saiju Jacob, Paul Maddison, Christopher Kennard, Penny A Gowland, Clive R Rosenthal
Magnetic resonance imaging has linked chronic voltage-gated potassium channel (VGKC) complex antibody-mediated limbic encephalitis with generalized hippocampal atrophy. However, autoantibodies bind to specific rodent hippocampal subfields. Here, human hippocampal subfield (subiculum, cornu ammonis 1-3, and dentate gyrus) targets of immunomodulation-treated LGI1 VGKC-complex antibody-mediated limbic encephalitis were investigated using in vivo ultra-high resolution (0.39 × 0.39 × 1.0 mm3) 7.0 T magnetic resonance imaging [n = 18 patients, 17 patients (94%) positive for LGI1 antibody and one patient negative for LGI1/CASPR2 but positive for VGKC-complex antibodies, mean age: 64...
March 28, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28363946/emergence-of-new-onset-psychotic-disorder-following-recovery-from-lgi1-antibody-associated-limbic-encephalitis
#13
Thomas A Pollak, Nick Moran
Neuronal autoantibodies targeting cell surface antigens have been described in association with autoimmune encephalitides which frequently feature psychosis and other psychiatric disturbances alongside neurological signs and symptoms. Little has been written however about the long-term psychiatric status of individuals following recovery from the acute phase of autoimmune encephalitis, despite case series and anecdotal evidence suggesting this may be a cause of considerable disability. Here, we describe a man aged 58 years with no psychiatric history who developed a severe and acute psychotic disorder following resolution of a protracted course of limbic encephalitis associated with antibodies to leucine-rich glioma inactivated 1 protein...
March 31, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28341002/seroprevalence-survey-of-selective-anti-neuronal-autoantibodies-in-patients-with-first-episode-schizophrenia-and-chronic-schizophrenia
#14
Chia-Hsiang Chen, Min-Chih Cheng, Chih-Min Liu, Chen-Chung Liu, Ko-Huan Lin, Hai-Gwo Hwu
Autoimmune encephalopathy caused by autoantibodies against neuronal cell-surface proteins in the brain is a newly discovered disease category associated with psychiatric disorders. Correct diagnosis of this condition relies on the detection of specific autoantibodies in the blood or cerebral spinal fluid in addition to the clinical presentations. The study aimed to understand the seroprevalence of selective anti-neuronal autoantibodies in our patients with schizophrenia. First, we screened for six anti-neuronal autoantibodies in an archived blood sample collected from patients with the first-episode schizophrenia...
March 21, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28331893/striking-basal-ganglia-imaging-abnormalities-in-lgi1-ab-faciobrachial-dystonic-seizures
#15
A Sebastian López Chiriboga, Jason L Siegel, William O Tatum, Jerry J Shih, Eoin P Flanagan
No abstract text is available yet for this article.
May 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28298428/autoantibodies-to-synaptic-receptors-and-neuronal-cell-surface-proteins-in-autoimmune-diseases-of-the-central-nervous-system
#16
REVIEW
Josep Dalmau, Christian Geis, Francesc Graus
Investigations in the last 10 years have revealed a new category of neurological diseases mediated by antibodies against cell surface and synaptic proteins. There are currently 16 such diseases all characterized by autoantibodies against neuronal proteins involved in synaptic signaling and plasticity. In clinical practice these findings have changed the diagnostic and treatment approach to potentially lethal, but now treatable, neurological and psychiatric syndromes previously considered idiopathic or not even suspected to be immune-mediated...
April 2017: Physiological Reviews
https://www.readbyqxmd.com/read/28272206/limbic-encephalitis-associated-with-anti-nh2-terminal-of-%C3%AE-enolase-antibodies-a-clinical-subtype-of-hashimoto-encephalopathy
#17
Toru Kishitani, Akiko Matsunaga, Masamichi Ikawa, Kouji Hayashi, Osamu Yamamura, Tadanori Hamano, Osamu Watanabe, Keiko Tanaka, Yasunari Nakamoto, Makoto Yoneda
Several types of autoantibodies have been reported in autoimmune limbic encephalitis (LE), such as antibodies against the voltage-gated potassium channel (VGKC) complex including leucine-rich glioma inactivated 1 (LGI1). We recently reported a patient with autoimmune LE and serum anti-NH2-terminal of α-enolase (NAE) antibodies, a specific diagnostic marker for Hashimoto encephalopathy (HE), who was diagnosed with HE based on the presence of antithyroid antibodies and responsiveness to immunotherapy. This case suggests that LE patients with antibodies to both the thyroid and NAE could be diagnosed with HE and respond to immunotherapy...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28248701/autoimmune-encephalitis-with-anti-leucine-rich-glioma-inactivated-1-or-anti-contactin-associated-protein-like-2-antibodies-formerly-called-voltage-gated-potassium-channel-complex-antibodies
#18
Anna E M Bastiaansen, Agnes van Sonderen, Maarten J Titulaer
PURPOSE OF REVIEW: Twenty years since the discovery of voltage-gated potassium channel (VGKC)-related autoimmunity; it is currently known that the antibodies are not directed at the VGKC itself but to two closely associated proteins, anti-leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein-like 2 (Caspr2). Antibodies to LGI1 and Caspr2 give well-described clinical phenotypes. Anti-LGI1 encephalitis patients mostly have limbic symptoms, and anti-Caspr2 patients have variable syndromes with both central and peripheral symptoms...
June 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28166327/neurological-autoantibody-prevalence-in-epilepsy-of-unknown-etiology
#19
Divyanshu Dubey, Abdulradha Alqallaf, Ryan Hays, Matthew Freeman, Kevin Chen, Kan Ding, Mark Agostini, Steven Vernino
Importance: Autoimmune epilepsy is an underrecognized condition, and its true incidence is unknown. Identifying patients with an underlying autoimmune origin is critical because these patients' condition may remain refractory to conventional antiseizure medications but may respond to immunotherapy. Objective: To determine the prevalence of neurological autoantibodies (Abs) among adult patients with epilepsy of unknown etiology. Design, Setting, and Participants: Consecutive patients presenting to neurology services with new-onset epilepsy or established epilepsy of unknown etiology were identified...
April 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28142128/the-clinical-phenotype-of-autosomal-dominant-lateral-temporal-lobe-epilepsy-related-to-reelin-mutations
#20
Roberto Michelucci, Patrizia Pulitano, Carlo Di Bonaventura, Simona Binelli, Concetta Luisi, Elena Pasini, Salvatore Striano, Pasquale Striano, Giangennaro Coppola, Angela La Neve, Anna Teresa Giallonardo, Oriano Mecarelli, Elena Serioli, Emanuela Dazzo, Manuela Fanciulli, Carlo Nobile
OBJECTIVE: To describe the clinical phenotype of 7 families with Autosomal Dominant Lateral Temporal Lobe Epilepsy (ADLTE) related to Reelin (RELN) mutations comparing the data with those observed in 12 LGI1-mutated pedigrees belonging to our series. METHODS: Out of 40 Italian families with ADLTE, collected by epileptologists participating in a collaborative study of the Commission for Genetics of the Italian League against Epilepsy encompassing a 14-year period (2000-2014), 7 (17...
March 2017: Epilepsy & Behavior: E&B
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