Divergent sodium channel defects in familial hemiplegic migraine (Q36775272)

16 August 2017

Divergent sodium channel defects in familial hemiplegic migraine (English)

1 reference

familial hemiplegic migraine

16 August 2017

1 reference

1 reference

inferred from title

author

Arn van den Maagdenberg

7

object named as

Arn M J M van den Maagdenberg

0 references

Martin Dichgans

8

object named as

Martin Dichgans

1 reference

16 August 2017

6

Michel D Ferrari

1 reference

16 August 2017

Kristopher M Kahlig

1

1 reference

16 August 2017

Thomas H Rhodes

2

1 reference

16 August 2017

Michael Pusch

3

1 reference

16 August 2017

Tobias Freilinger

4

1 reference

16 August 2017

José M Pereira-Monteiro

5

1 reference

16 August 2017

Alfred L George

9

1 reference

16 August 2017

language of work or name

English

0 references

publication date

9 July 2008

1 reference

Proceedings of the National Academy of Sciences of the United States of America

16 August 2017

1 reference

16 August 2017

105

1 reference

16 August 2017

28

1 reference

16 August 2017

9799-9804

1 reference

describes a project that uses

16 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2474506/fullTextXML

inferred from PubMed Central ID database lookup

cites work

The brain is hyperexcitable in migraine

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Migraine: gene mutations and functional consequences

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Recent advances in understanding migraine mechanisms, molecules and therapeutics

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

A Cacna1a knockin migraine mouse model with increased susceptibility to cortical spreading depression

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

The International Classification of Headache Disorders: 2nd edition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Localization of voltage-gated ion channels in mammalian brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Deciphering migraine mechanisms: clues from familial hemiplegic migraine genotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Amphetamine regulation of dopamine transport. Combined measurements of transporter currents and transporter imaging support the endocytosis of an active carrier.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Expression and distribution of voltage-gated sodium channels in the cerebellum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Molecular basis of an inherited 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=2474506

PI 3-kinase regulation of dopamine uptake.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Cocaine increases dopamine uptake and cell surface expression of dopamine transporters

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Comparative distribution of voltage-gated sodium channel proteins in human brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Comparison of heterologously expressed human cardiac and skeletal muscle sodium channels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Pathophysiology of the migraine aura. The spreading depression theory

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Amino acid residues required for fast Na(+)-channel inactivation: charge neutralizations and deletions in the III-IV linker

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online.

29 September 2017

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0711717105

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0711717105

Novel clustering of sodium channel Na(v)1.1 with ankyrin-G and neurofascin at discrete sites in the inner plexiform layer of the retina.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0711717105

A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0711717105

Distal initiation and active propagation of action potentials in interneuron dendrites.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0711717105

First mutation in the voltage-gated Nav1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Type I and type II Na(+) channel alpha-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474506

Increased risk of migraine with typical aura in probands with familial hemiplegic migraine and their relatives

5 September 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0711717105

Differential subcellular localization of the RI and RII Na+ channel subtypes in central neurons

21 January 2018

1 reference

12 December 2020

1 reference

12 December 2020

Polarized distribution of ion channels within microdomains of the axon initial segment

1 reference

12 December 2020

Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant

1 reference

12 December 2020

Regulation of dopamine transporter trafficking by intracellular amphetamine

1 reference

12 December 2020

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0711717105

1 reference

16 August 2017

0 references

1 reference

16 August 2017

1 reference