(Q35106483)

6 August 2017

The phenotypic spectrum of SCN8A encephalopathy (English)

1 reference

6 August 2017

28

Niels Tommerup

0 references

Helle Hjalgrim

33

Helle Hjalgrim

0 references

Jacinta M McMahon

Jacinta M McMahon

19

0 references

Deepak Gill

Deepak Gill

16

0 references

Elena Gardella

Elena Gardella

3

0 references

Ingrid Scheffer

35

Ingrid E Scheffer

0 references

Sarah Weckhuysen

27

Sarah Weckhuysen

1 reference

6 August 2017

Nicola Specchio

25

0 references

Rikke S Møller

Rikke S Møller

37

0 references

Renzo Guerrini

34

Renzo Guerrini

1 reference

6 August 2017

36

Heather C Mefford

1 reference

6 August 2017

22

Kees Braun

1 reference

6 August 2017

7

Christel Depienne

1 reference

6 August 2017

2

Gemma L Carvill

1 reference

6 August 2017

4

Gerhard Kluger

1 reference

6 August 2017

8

Eva Brilstra

1 reference

6 August 2017

15

Birgit Jepsen

1 reference

6 August 2017

17

Miriam Döcker

1 reference

6 August 2017

18

Saskia Biskup

1 reference

6 August 2017

32

Markus Wolff

1 reference

6 August 2017

23

Carolien G F de Kovel

1 reference

6 August 2017

26

Tania Djémié

1 reference

6 August 2017

20

Bobby Koeleman

1 reference

6 August 2017

31

Andrea Bevot

1 reference

6 August 2017

Jan Larsen

1

1 reference

6 August 2017

Gudrun Schmiedel

5

1 reference

6 August 2017

Nina Barisic

6

1 reference

6 August 2017

Yuan Mang

9

1 reference

6 August 2017

Jens Erik Klint Nielsen

10

1 reference

6 August 2017

Martin Kirkpatrick

11

1 reference

6 August 2017

David Goudie

12

1 reference

6 August 2017

Rebecca Goldman

13

1 reference

6 August 2017

Johanna A Jähn

14

1 reference

6 August 2017

Mandy Harris

21

1 reference

6 August 2017

Carla Marini

24

1 reference

6 August 2017

Monica Troncoso

29

1 reference

6 August 2017

Ledia Troncoso

30

1 reference

6 August 2017

EuroEPINOMICS RES Consortium CRP

38

1 reference

6 August 2017

language of work or name

English

0 references

publication date

7 January 2015

1 reference

6 August 2017

1 reference

6 August 2017

84

1 reference

6 August 2017

5

1 reference

6 August 2017

480-489

1 reference

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

6 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

De novo mutations in epileptic encephalopathies

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

Genetics of the epilepsies: where are we and where are we going?

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

Sodium channels and the neurobiology of epilepsy

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

Current therapeutic procedures in Dravet syndrome.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

MutationTaster evaluates disease-causing potential of sequence alterations

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

Molecular identity of dendritic voltage-gated sodium channels

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

Dravet syndrome: from electroclinical characteristics to molecular biology

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

Sodium-channel defects in benign familial neonatal-infantile seizures

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

Mutation of a new sodium channel gene, Scn8a, in the mouse mutant ‘motor endplate disease’

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

Inactivation of sodium channel Scn8A (Na-sub(v)1.6) in Purkinje neurons impairs learning in Morris water maze and delay but not trace eyeblink classical conditioning.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4336074

10.1212/WNL.0000000000001211

16 November 2018

Identifiers

DOI

1 reference

release_4zfqgks475dlxpbx2mxnceeeja

6 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4zfqgks475dlxpbx2mxnceeeja

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

4336074

1 reference

6 August 2017

1 reference