(Q28601444)

GOA release 2020-03-11

author

Aarno Palotie

5

0 references

Anna-Elina Lehesjoki

11

0 references

Mikko Muona

object named as

Mikko Muona

1

0 references

Leena Valanne

object named as

Leena Valanne

8

0 references

author name string

Yuko Fukata

2

0 references

Anna-Kaisa Anttonen

3

0 references

Anni Laari

4

0 references

Helena Pihko

6

0 references

Tuula Lönnqvist

7

0 references

Mirja Somer

9

0 references

Masaki Fukata

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

10

0 references

language of work or name

English

0 references

publication date

February 2016

0 references

1 reference

2

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page(s)

e46

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issue

1

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

De novo mutations in epileptic encephalopathies

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

The Genotype-Tissue Expression (GTEx) project

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Antibodies to Kv1 potassium channel-complex proteins leucine-rich, glioma inactivated 1 protein and contactin-associated protein-2 in limbic encephalitis, Morvan's syndrome and acquired neuromyotonia

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Adam22 is a major neuronal receptor for Lgi4-mediated Schwann cell signaling

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

ADAM22, a Kv1 channel-interacting protein, recruits membrane-associated guanylate kinases to juxtaparanodes of myelinated axons

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Ataxia and peripheral nerve hypomyelination in ADAM22-deficient mice

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Identification of PSD-95 palmitoylating enzymes

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

A framework for variation discovery and genotyping using next-generation DNA sequencing data

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Spatio-temporal transcriptome of the human brain

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

The LGI1-ADAM22 protein complex directs synapse maturation through regulation of PSD-95 function

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Identification of a common risk haplotype for canine idiopathic epilepsy in the ADAM23 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Autoantibodies to epilepsy-related LGI1 in limbic encephalitis neutralize LGI1-ADAM22 interaction and reduce synaptic AMPA receptors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

The ADAMs family of proteases: new biomarkers and therapeutic targets for cancer?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Electroclinical characterization of epileptic seizures in leucine-rich, glioma-inactivated 1-deficient mice.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Investigation of LGI1 as the antigen in limbic encephalitis previously attributed to potassium channels: a case series

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Lgi1 null mutant mice exhibit myoclonic seizures and CA1 neuronal hyperexcitability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Structural characterization of the ectodomain of a disintegrin and metalloproteinase-22 (ADAM22), a neural adhesion receptor instead of metalloproteinase: insights on ADAM function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Differential coding potential of ADAM22 mRNAs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

ADAM22 plays an important role in cell adhesion and spreading with the assistance of 14-3-3.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

The specific expression of three novel splice variant forms of human metalloprotease-like disintegrin-like cysteine-rich protein 2 gene inBrain tissues and gliomas

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Mitochondrial disorders: analysis of their clinical and imaging characteristics.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Chemical corrector treatment ameliorates increased seizure susceptibility in a mouse model of familial epilepsy.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4817901

Autosomal dominant lateral temporal epilepsy: Absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27066583

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Menkes kinky hair disease: characteristic MR angiographic findings

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27066583

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ADAM proteins, their ligands, and clinical implications

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27066583