Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy (Q40866479)

24 September 2017

0 references

Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy (English)

1 reference

24 September 2017

1 reference

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Ruth Ottman

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Giovanni Minervini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Silvio C.E. Tosatto

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Emanuela Dazzo

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Manuela Fanciulli

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Elena Serioli

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Patrizia Pulitano

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Simona Binelli

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Carlo Di Bonaventura

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Concetta Luisi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Elena Pasini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Salvatore Striano

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Pasquale Striano

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Angela Chiavegato

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Slobodanka Radovic

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Alessandro Spadotto

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Sergio Uzzau

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Angela La Neve

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Anna Teresa Giallonardo

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Oriano Mecarelli

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Roberto Michelucci

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Carlo Nobile

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

language of work or name

English

0 references

publication date

1 June 2015

1 reference

American Journal of Human Genetics

24 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

992-1000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures

12 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Reelin signaling in development, maintenance, and plasticity of neural networks

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Reelin deficiency causes specific defects in the molecular composition of the synapses in the adult brain

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Fast and accurate short read alignment with Burrows-Wheeler transform

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Reelin secreted by GABAergic neurons regulates glutamate receptor homeostasis

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

The worldwide Protein Data Bank (wwPDB): ensuring a single, uniform archive of PDB data

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Structure of a signaling-competent reelin fragment revealed by X-ray crystallography and electron tomography

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Polymorphic GGC repeat differentially regulates human reelin gene expression levels

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Extracellular matrix molecules and synaptic plasticity: immunomapping of intracellular and secreted Reelin in the adult rat brain

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Modulation of synaptic plasticity and memory by Reelin involves differential splicing of the lipoprotein receptor Apoer2

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

UCSF Chimera--a visualization system for exploratory research and analysis

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

LGI1 mutations in autosomal dominant partial epilepsy with auditory features

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Receptor clustering is involved in Reelin signaling

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Reelin promotes hippocampal dendrite development through the VLDLR/ApoER2-Dab1 pathway

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Methodological factors influencing measurement and processing of plasma reelin in humans

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

ESPript/ENDscript: Extracting and rendering sequence and 3D information from atomic structures of proteins

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Sialidase-like Asp-boxes: sequence-similar structures within different protein folds

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Expression of reelin in adult mammalian blood, liver, pituitary pars intermedia, and adrenal chromaffin cells

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Reelin is a ligand for lipoprotein receptors

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Reelin-induced tyrosine [corrected] phosphorylation of disabled 1 during neuronal positioning

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Localization of a gene for partial epilepsy to chromosome 10q

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

The reeler gene: a clue to brain development and evolution

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Tyrosine phosphorylation of Disabled-1 is essential for Reelin-stimulated activation of Akt and Src family kinases

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Three novel repetitive units of reelin

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Identification of reelin-induced sites of tyrosyl phosphorylation on disabled 1.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

The reeler mouse as a model of brain development

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4457960

Familial temporal lobe epilepsy: a common disorder identified in twins

19 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26046367

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2015.04.020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

PubMed publication ID

26046367

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26046367%20AND%20SRC:MED&resulttype=core&format=json