SCN8A encephalopathy: Research progress and prospects (Q33866136)

29 July 2017

SCN8A encephalopathy: Research progress and prospects (English)

1 reference

BioRegistry: automatic extraction of metadata for biological database retrieval and discovery

29 July 2017

0 references

drug screening

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encephalopathy

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voltage-gated sodium channel

0 references

1 reference

John Schreiber

14

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Guy Helman

Guy Helman

2

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Christoph Lossin

Christoph Lossin

10

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Adeline Vanderver

Adeline Vanderver

20

0 references

Ingrid Scheffer

21

Ingrid E Scheffer

1 reference

29 July 2017

Shinichi Hirose

7

0 references

Heather C. Mefford

11

Heather C Mefford

1 reference

29 July 2017

12

Jack M Parent

1 reference

29 July 2017

Miriam H Meisler

1

1 reference

29 July 2017

Michael F Hammer

3

1 reference

29 July 2017

Brandy E Fureman

4

1 reference

29 July 2017

William D Gaillard

5

1 reference

29 July 2017

Alan L Goldin

6

1 reference

29 July 2017

Atsushi Ishii

8

1 reference

29 July 2017

Barbara L Kroner

9

1 reference

29 July 2017

Manoj Patel

13

1 reference

29 July 2017

Randall Stewart

15

1 reference

29 July 2017

Vicky Whittemore

16

1 reference

29 July 2017

Karen Wilcox

17

1 reference

29 July 2017

Jacy L Wagnon

18

1 reference

29 July 2017

Phillip L Pearl

19

1 reference

29 July 2017

language of work or name

English

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publication date

8 June 2016

1 reference

29 July 2017

1 reference

29 July 2017

57

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29 July 2017

7

1 reference

29 July 2017

1027-1035

1 reference

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

The genetic landscape of the epileptic encephalopathies of infancy and childhood.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Late Sodium Current in Human Atrial Cardiomyocytes from Patients in Sinus Rhythm and Atrial Fibrillation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Dravet syndrome--from epileptic encephalopathy to channelopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

The role of non-pore-forming β subunits in physiology and pathophysiology of voltage-gated sodium channels.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

De novo mutations in epileptic encephalopathies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

The 2010 revised classification of seizures and epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

The epidemiology of seizure disorders in infancy and childhood: definitions and classifications

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

An ankyrinG-binding motif is necessary and sufficient for targeting Nav1.6 sodium channels to axon initial segments and nodes of Ranvier

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

A null mutation of the neuronal sodium channel NaV1.6 disrupts action potential propagation and excitation-contraction coupling in the mouse heart

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Resurgent Na+ current: a new avenue to neuronal excitability control

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

A method and server for predicting damaging missense mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

UCSC genome browser tutorial

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Sodium channel mutations in epilepsy and other neurological disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

SIFT: Predicting amino acid changes that affect protein function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Sodium-channel defects in benign familial neonatal-infantile seizures

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Compact myelin dictates the differential targeting of two sodium channel isoforms in the same axon.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Sodium channel Na(v)1.6 is localized at nodes of ranvier, dendrites, and synapses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Functional analysis of the mouse Scn8a sodium channel.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

A national profile of childhood epilepsy and seizure disorder

28 July 2018

1 reference

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.

21 January 2018

1 reference

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

21 January 2018

1 reference

The phenotypic spectrum of SCN8A encephalopathy

21 January 2018

1 reference

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

21 January 2018

1 reference

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study.

21 January 2018

1 reference

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

21 January 2018

1 reference

Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.

21 January 2018

1 reference

SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

21 January 2018

1 reference

Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.

21 January 2018

1 reference

Slow inactivation of Na(+) channels.

21 January 2018

1 reference

Contribution of sodium channel neuronal isoform Nav1.1 to late sodium current in ventricular myocytes from failing hearts

21 January 2018

1 reference

Differential targeting and functional specialization of sodium channels in cultured cerebellar granule cells.

21 January 2018

1 reference

Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron.

21 January 2018

1 reference

Mutations in KCNT1 cause a spectrum of focal epilepsies.

21 January 2018

1 reference

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

21 January 2018

1 reference

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

21 January 2018

1 reference

A human Dravet syndrome model from patient induced pluripotent stem cells

21 January 2018

1 reference

Large-Scale Phenotype-Based Antiepileptic Drug Screening in a Zebrafish Model of Dravet Syndrome(1,2,3).

21 January 2018

1 reference

The Epilepsy Foundation leads in the Rare Epilepsy Network PCORI Award.

21 January 2018

1 reference

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.

21 January 2018

1 reference

Persistent Nav1.6 current at axon initial segments tunes spike timing of cerebellar granule cells.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

Functional specialization of the axon initial segment by isoform-specific sodium channel targeting.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5495462

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

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27270488

12 December 2020

inferred from PubMed ID database lookup

The NIH/NINDS Anticonvulsant Screening Program (ASP): recommendations from the working group's 2012 review of the Program

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27270488

12 December 2020

inferred from PubMed ID database lookup

The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27270488

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1111/EPI.13422

1 reference

release_geb4f5szbva5ddgclagici6vs4

29 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/geb4f5szbva5ddgclagici6vs4

24 November 2022

mapped directly with Wikidata item

PMCID

5495462

1 reference

29 July 2017

1 reference