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Lee, M.K.,Kim, S.W.,Lee, J.H.,Cho, Y.J.,Kim, D.E.,Lee, B.I.,Kim, H.M.,Lee, M.G.,Heo, K. Baillière Tindall ; W.B. Saunders 2014 SEIZURE Vol.23 No.1
Purpose: A new leucine-rich glioma-inactivated 1 gene (LGI1) mutation inducing an amino acid sequence substitution was found in a Korean family with autosomal dominant lateral temporal lobe epilepsy (ADLTE). We report the clinical features and characteristics of this newly identified LGI1 mutation. Methods: Clinical data were collected from a large ADLTE family. All exons and flanking regions of the LGI1 gene were directly sequenced. 243 healthy controls were screened for the putative mutation. The 'Sorting Tolerant From Intolerant' algorithm was employed for the prediction of mutated LGI1 protein stability. LGI1 protein secretion was confirmed in vitro by immunoblotting assay. Results: The main clinical characteristics included a young age at onset (mean, 12.4 years), diverse phenotypic manifestations, the occurrence of generalized tonic-clonic seizures, and a favorable prognosis. The genetic analysis detected a nonsynonymous single nucleotide polymorphism of c.137G>T coding for p.C46F in the five affected family members. This variant was not found in the normal control population and one unaffected family member. All the amino acids substituted for cysteine at position 46 of the LGI1 protein were predicted to damage protein stability in in silico analysis. Mutated C46F protein was retained within the cell at the immunoblotting assay. Conclusion: We identified a new LGI1 mutation in a large Korean ADLTE family which appeared to be involved in the development of epilepsy through suppressing LGI1 protein secretion.
김은수,이희준,전상원,조성준,Kim, Eun Soo,Lee, HeeJun,Jeon, Sang Won,Cho, Sung Joon 대한생물정신의학회 2020 생물정신의학 Vol.27 No.2
Leucine rich glioma inactivated (LGI1) encephalitis is an uncommon neurological disorder rarely encountered in clinical practice. However, it is a potentially fatal autoimmune syndrome that can decrease the level of consciousness, possibly progressing to coma. Additionally, unless diagnosed and promptly treated, it can cause permanent cognitive impairment. Since LGI1 encephalitis can initially present with psychiatric symptoms, there can be delays in reaching a proper diagnosis. This report describes a case of a 47-year-old woman with LGI1 antibodies-associated limbic encephalitis who initially presented with psychosis. Her blood tests were normal and no MRI and EEG abnormalities were found. Cerebrospinal fluid analysis was negative for other possible infectious causes. Three months after admission, she was found to be LGI1 antibody positive. LGI1 encephalitis should be suspected in patients with symptoms such as memory loss, confusion, seizures, and psychiatric symptoms. Prompt diagnosis and treatment of LGI1 encephalitis are warranted because prognosis becomes worse when such actions are delayed.
안면상완근긴장발작으로 발현한 항LGI1항체 자가면역뇌염
김현진,김보미,황지혜,이유진,이순태,강중구 대한신경과학회 2014 대한신경과학회지 Vol.32 No.1
Anti-LGI1 (leucine-rich glioma inactivated-1) antibody encephalitis is one of autoimmune encephalitis. We report a66-year-old man who presented with frequent, brief dystonic seizures which involve predominantly ipsilateral face andarm without cognitive impairment. Brain MRI showed normal finding. Serum and CSF tests revealed anti-LGI1antibody. His symptom was not relieved by antiepileptic drugs, but completely controlled after immunotherapy. Thiscase indicates that recognition of the brief, dystonic seizures should do tests for anti-LGI1 antibodies.
최석홍,김두환,이현준,신동진 대한신경과학회 2020 대한신경과학회지 Vol.38 No.4
Anti-leucine-rich glioma inactivated-1 (LGI1) antibody has been known as the most common antibody in autoimmune limbic encephalitis. We report a case of a 63-year-old woman who presented with repetitive memory impairment. She was diagnosed with anti-LGI1 limbic encephalitis by clinical symptoms, magnetic resonance imaging, electroencephalography, and antibody test. Hepatocellular carcinoma (HCC) was discovered incidentally. Clinical seizures were completely controlled after hepatic segmentectomy without immunotherapy. This is the first case report showing the relationship between HCC and anti-LGI1 limbic encephalitis.
도약잘린끝(Jumping Stump)증후군을 모방한 항-LGI1항체뇌염
우민희,최정원,정다다,신정원 대한신경과학회 2020 대한신경과학회지 Vol.38 No.1
Jumping stump syndrome is considered to be a peripherally induced movement disorder due to damage to peripheral nerves leading to dystonia or myoclonus. Anti-leucine-rich glioma-inactivated 1 antibody (anti-LGI 1 Ab) encephalitis is clinically characterized with progressive cognitive dysfunction and seizure including facial brachial dystonic seizure. We report a case of a woman with a history of intractable involuntary movement on amputated forearm diagnosed as anti-LGI 1 Ab encephalitis, mimicking symptoms of jumping stump syndrome.
저나트륨혈증 발생과 연관되어 증상 악화를 보이는 항LGI-1항체뇌염
김민주,이정석 대한신경과학회 2020 대한신경과학회지 Vol.38 No.4
Anti-leucine-rich glioma-inactivated 1 (LGI-1) encephalitis is clinically characterized by subacute cognitive decline and frequent seizures including fasciobrachial dystonic seizures. A 67-year-old man visited the emergency department due to the recurrent episodes of seizures of 4 days duration. At the time of the visit, he showed hyponatremia at Na 121 mg/dL. His symptoms were relieved by 3% sodium chloride and water restriction. Here we report a case of anti-LGI-1 encephalitis with worsening symptoms associated with hyponatremia.
스테로이드 치료에 반응을 보인 재발성 LGI1 항체연관변연계뇌염
노경하,김승주,조재욱,신진홍,이재혁 대한신경과학회 2014 대한신경과학회지 Vol.32 No.2
Limbic encephalitis (LE) is characterized by short-term memory loss, disorientation, agitation, seizures, and histologicalevidence of mesial temporal lobe inflammation. Leucine-rich, glioma inactivated 1 (LGI1) is the autoantigen associatedwith limbic encephalitis that was previously attributed to voltage-gated potassium channels. We report herein a54-year-old female with LGI1-related limbic encephalitis who presented with recurrent episodes of episodic memoryimpairment, depressive mood, and phantosmia. Her symptoms dramatically improved with steroid therapy.
Limbic Encephalitis Manifesting as Selective Amnesia and Seizure-like Activity: A Case Report
So Yeon Kim,엄유현,Sung Chul Lim,Jong Hyun Jeong 대한정신약물학회 2018 CLINICAL PSYCHOPHARMACOLOGY AND NEUROSCIENCE Vol.16 No.1
Limbic encephalitis (LE) is characterized by short-term memory loss, disorientation, agitation, seizures, and histopathological evidence of medial temporal lobe inflammation. Leucine-rich, glioma inactivated 1 (LGI-1) is an auto-antigen associated with LE. We report a 37-year-old male patient with LGI-1-related LE who presented with recurrent episodes of selective amnesia, seizure-like activity, confusion, and personality change. His symptoms were significantly improved with steroid therapy. Thorough differential diagnosis with consideration for autoimmune encephalitis should be in patients with presentation of symptoms, such as memory impairment, personality change and seizure-like activity, especially when other neurological diagnoses are excluded.
Leucine-rich repeat proteins of synapses
Ko, Jaewon,Kim, Eunjoon Wiley Subscription Services, Inc., A Wiley Company 2007 Journal of neuroscience research Vol.85 No.13
<P>Leucine-rich repeats (LRRs) are 20–29-aa motifs that mediate protein–protein interactions and are present in a variety of membrane and cytoplasmic proteins. Many LRR proteins with neuronal functions have been reported. Here, we summarize an emerging group of synaptic LRR proteins, which includes densin-180, Erbin, NGL, SALM, and LGI1. These proteins have been implicated in the formation, differentiation, maintenance, and plasticity of neuronal synapses. © 2007 Wiley-Liss, Inc.</P>