Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF (Q35758502)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323750%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

title

Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF (English)

1 reference

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22 January 2020

3

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22 January 2020

2

Iuliana Ionita-Laza

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22 January 2020

author name string

Yuan-Yuan Ho

series ordinal

1

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22 January 2020

language of work or name

English

0 references

publication date

8 February 2012

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22 January 2020

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22 January 2020

volume

78

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22 January 2020

issue

8

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22 January 2020

page(s)

563-568

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A computational model of the LGI1 protein suggests a common binding site for ADAM proteins.

22 January 2020

cites work

1 reference

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2 October 2017

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2 October 2017

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Evaluation of depression risk in LGI1 mutation carriers

2 October 2017

1 reference

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Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability

2 October 2017

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Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy.

2 October 2017

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2 October 2017

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LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

2 October 2017

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LGI1 and LGI4 bind to ADAM22, ADAM23 and ADAM11

2 October 2017

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Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

2 October 2017

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A novel loss-of-function LGI1 mutation linked to autosomal dominant lateral temporal epilepsy

2 October 2017

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

2 October 2017

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2 October 2017

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The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1

2 October 2017

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Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation

2 October 2017

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LGI1 mutations in autosomal dominant partial epilepsy with auditory features

2 October 2017

1 reference

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LGI1 mutations in temporal lobe epilepsies

2 October 2017

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Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene

2 October 2017

1 reference

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Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features

2 October 2017

1 reference

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Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism

2 October 2017

1 reference

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

2 October 2017

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

2 October 2017

1 reference

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2 October 2017

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Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24.

2 October 2017

1 reference

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

2 October 2017

1 reference

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Localization of a gene for partial epilepsy to chromosome 10q

2 October 2017

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Autosomal dominant partial epilepsy with auditory features: defining the phenotype

2 October 2017

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Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.

12 July 2018

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Mutations in LGI1 gene in Japanese families with autosomal dominant lateral temporal lobe epilepsy: the first report from Asian families.

25 September 2018

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Drug resistant ADLTE and recurrent partial status epilepticus with dysphasic features in a family with a novel LGI1mutation: electroclinical, genetic, and EEG/fMRI findings

25 September 2018

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A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes

25 September 2018

1 reference

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Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

25 September 2018

1 reference

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Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras

25 September 2018

1 reference

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Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families

25 September 2018

1 reference

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Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.

25 September 2018

1 reference

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Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22323750

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Autosomal dominant temporal lobe epilepsy in a Japanese family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22323750

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E318247CCBF

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323750%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323750%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22323750%20AND%20SRC:MED&resulttype=core&format=json