SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures (Q36052955)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26291284%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

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

1 reference

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Malignant Migrating Partial Seizures in Infancy

22 February 2020

main subject

1 reference

1 reference

12

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22 February 2020

Ingrid Scheffer

16

1 reference

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22 February 2020

13

Annapurna Poduri

1 reference

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22 February 2020

14

Heather C Mefford

1 reference

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22 February 2020

author name string

Katherine B Howell

1

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22 February 2020

Jacinta M McMahon

2

1 reference

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22 February 2020

Gemma L Carvill

3

1 reference

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22 February 2020

Dimira Tambunan

4

1 reference

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22 February 2020

Mark T Mackay

5

1 reference

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22 February 2020

Victoria Rodriguez-Casero

6

1 reference

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22 February 2020

Richard Webster

7

1 reference

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22 February 2020

Damian Clark

8

1 reference

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22 February 2020

Jeremy L Freeman

9

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22 February 2020

Sophie Calvert

10

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22 February 2020

Heather E Olson

11

1 reference

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22 February 2020

A Simon Harvey

15

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22 February 2020

language of work or name

English

0 references

publication date

19 August 2015

1 reference

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22 February 2020

1 reference

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22 February 2020

volume

85

1 reference

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22 February 2020

issue

11

1 reference

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22 February 2020

page(s)

958-966

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The phenotypic spectrum of SCN8A encephalopathy

22 February 2020

cites work

1 reference

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Genotype phenotype associations across the voltage-gated sodium channel family

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

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

2 October 2017

1 reference

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Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.

2 October 2017

1 reference

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Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Using whole-exome sequencing to identify inherited causes of autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Sodium channels and the neurobiology of epilepsy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Clinical application of exome sequencing in undiagnosed genetic conditions

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

SCN1A mutations and epilepsy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Sodium-channel defects in benign familial neonatal-infantile seizures

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

2 October 2017

1 reference

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Early onset epileptic encephalopathy caused by de novo SCN8A mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Head stereotypies in STXBP1 encephalopathy

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Diagnostic exome sequencing in persons with severe intellectual disability

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Acute encephalopathy with a novel point mutation in the SCN2A gene

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4567464

Confirming an expanded spectrum of SCN2A mutations: a case series

5 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26291284

12 December 2020

inferred from PubMed ID database lookup

Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26291284

12 December 2020

inferred from PubMed ID database lookup

A novel SCN2A mutation in family with benign familial infantile seizures

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26291284

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1212/WNL.0000000000001926

1 reference

Fatcat

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30 July 2022

release_44wudep3nfcuhg5bzs4hpc37ly

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/44wudep3nfcuhg5bzs4hpc37ly

30 July 2022

https://api.fatcat.wiki/v0/release/44wudep3nfcuhg5bzs4hpc37ly

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/44wudep3nfcuhg5bzs4hpc37ly

PubMed publication ID

1 reference

30 July 2022