Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability - Wikidata - awgldk - TriplyDB

Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability

Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability

http://www.wikidata.org/entity/Q33773677

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Clinical and experimental studies of potentially pathogenic brain-directed autoantibodies: current knowledge and future directions Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models LGI proteins in the nervous system.Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects Faciobrachial dystonic seizures precede Lgi1 antibody limbic encephalitis Etiology of a genetically complex seizure disorder in Celf4 mutant mice Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy Autoimmune encephalopathies.Autoantibodies to epilepsy-related LGI1 in limbic encephalitis neutralize LGI1-ADAM22 interaction and reduce synaptic AMPA receptors Knockdown of zebrafish Lgi1a results in abnormal development, brain defects and a seizure-like behavioral phenotype Loss of zebrafish lgi1b leads to hydrocephalus and sensitization to pentylenetetrazol induced seizure-like behavior.The temporal and spatial expression pattern of the LGI1 epilepsy predisposition gene during mouse embryonic cranial development.Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice.Advances in Autoimmune Epilepsy Associated with Antibodies, Their Potential Pathogenic Molecular Mechanisms, and Current Recommended Immunotherapies Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2.mTORC1 Is a Local, Postsynaptic Voltage Sensor Regulated by Positive and Negative Feedback Pathways.LGI2 truncation causes a remitting focal epilepsy in dogs.Investigation of LGI1 as the antigen in limbic encephalitis previously attributed to potassium channels: a case series Elucidating the Complex Interactions between Stress and Epileptogenic Pathways Essential roles of leucine-rich glioma inactivated 1 in the development of embryonic and postnatal cerebellum.Encephalitis and antibodies to synaptic and neuronal cell surface proteins.Mutant LGI1 inhibits seizure-induced trafficking of Kv4.2 potassium channels Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF Epilepsy as a neurodevelopmental disorder.The LGI1-ADAM22 protein complex directs synapse maturation through regulation of PSD-95 function LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development.Clinical spectrum and diagnostic value of antibodies against the potassium channel related protein complex.Identification of genetic variants of LGI1 and RTN4R (NgR1) linked to schizophrenia that are defective in NgR1-LGI1 signaling Homozygous inactivation of the LGI1 gene results in hypomyelination in the peripheral and central nervous systems.The very large G protein coupled receptor (Vlgr1) in hair cells.LGI1 is involved in the development of mouse brain.LGI1 tunes intrinsic excitability by regulating the density of axonal Kv1 channels.Autoantibodies to Synaptic Receptors and Neuronal Cell Surface Proteins in Autoimmune Diseases of the Central Nervous System.Motor cortex and hippocampus are the two main cortical targets in LGI1-antibody encephalitis.Arrested glutamatergic synapse development in human partial epilepsy.Putting the Horse Before the Cart: Looking to Presynaptic Mechanisms in Genetic Models.Chemical corrector treatment ameliorates increased seizure susceptibility in a mouse model of familial epilepsy.Homozygous Deletion of the LGI1 Gene in Mice Leads to Developmental Abnormalities Resulting in Cortical Dysplasia.Leucine-rich glioma inactivated 1 (Lgi1), an epilepsy-related secreted protein, has a nuclear localization signal and localizes to both the cytoplasm and the nucleus of the caudal ganglionic eminence neurons.

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P2860

Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability

http://www.wikidata.org/entity/Q33773677

description

2010 nî lūn-bûn

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2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability

@ast

Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability

@en

type

label

Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability

@ast

Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability

@en

prefLabel

Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability

@ast

Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability

@en

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Human Molecular Genetics

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Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability

@en

P2093

Annie Pao

http://www.w3.org/2001/XMLSchema#string

Jeane Silva

http://www.w3.org/2001/XMLSchema#string

Karen Head

http://www.w3.org/2001/XMLSchema#string

Khalid Sossey-Alaoui

http://www.w3.org/2001/XMLSchema#string

Lei Wen

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Lin Mei

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Y Eugene Yu

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Zhongyou Li

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P2860

A novel gene, LGI1, from 10q24 is rearranged and downregulated in malignant brain tumors

The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface

Ataxia and peripheral nerve hypomyelination in ADAM22-deficient mice

LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

Localization of a gene for partial epilepsy to chromosome 10q

Suppression of the cell proliferation and invasion phenotypes in glioma cells by the LGI1 gene

Ion channels and epilepsy

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders

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1702-1711

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10.1093/HMG/DDQ047

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9

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19

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41404942

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20130004

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2850618

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