(Q37179285)

18 August 2017

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism (English)

1 reference

18 August 2017

1 reference

1 reference

14

Lori L Isom

1 reference

18 August 2017

Yu Liu

1

1 reference

18 August 2017

Luis F Lopez-Santiago

2

1 reference

18 August 2017

Yukun Yuan

3

1 reference

18 August 2017

Julie M Jones

4

1 reference

18 August 2017

Helen Zhang

5

1 reference

18 August 2017

Heather A O'Malley

6

1 reference

18 August 2017

Gustavo A Patino

7

1 reference

18 August 2017

Janelle E O'Brien

8

1 reference

18 August 2017

Raffaella Rusconi

9

1 reference

18 August 2017

Ajay Gupta

10

1 reference

18 August 2017

Robert C Thompson

11

1 reference

18 August 2017

Marvin R Natowicz

12

1 reference

18 August 2017

Miriam H Meisler

13

1 reference

18 August 2017

Jack M Parent

15

1 reference

18 August 2017

2 July 2013

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18 August 2017

1 reference

18 August 2017

74

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18 August 2017

1

1 reference

18 August 2017

128-139

1 reference

describes a project that uses

18 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3775921/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Dravet syndrome: insights from in vitro experimental models.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Neuroimaging and neuropathology of Dravet syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Investigating synapse formation and function using human pluripotent stem cell-derived neurons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Modelling the long QT syndrome with induced pluripotent stem cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Patient-specific induced pluripotent stem-cell models for long-QT syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Neurological channelopathies: new insights into disease mechanisms and ion channel function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

NaV1.1 channels and epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

A functional null mutation of SCN1B in a patient with Dravet syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

A rosette-type, self-renewing human ES cell-derived neural stem cell with potential for in vitro instruction and synaptic integration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Induced pluripotent stem cells from a spinal muscular atrophy patient

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Inherited neuronal ion channelopathies: new windows on complex neurological diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Disease-specific induced pluripotent stem cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Differentiation of human embryonic stem cells to regional specific neural precursors in chemically defined medium conditions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Induced pluripotent stem cell lines derived from human somatic cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Cloning and expression of a zebrafish SCN1B ortholog and identification of a species-specific splice variant

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Sodium channel mutations in epilepsy and other neurological disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Severe myoclonic epilepsy in infancy: Dravet syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Functional analysis of the rat I sodium channel in xenopus oocytes.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

The spectrum of SCN1A-related infantile epileptic encephalopathies.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Sodium channel beta2 subunits regulate tetrodotoxin-sensitive sodium channels in small dorsal root ganglion neurons and modulate the response to pain.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3775921

Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23821540

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23821540

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/ANA.23897

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

23821540

1 reference