(Q40265722)

19 September 2017

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

1 reference

19 September 2017

whole genome sequencing

1 reference

1 reference

Gerard T Berry

7

0 references

Annapurna Poduri

9

object named as

Annapurna Poduri

1 reference

19 September 2017

8

Hannah C Kinney

1 reference

19 September 2017

Marlin Touma

1

1 reference

19 September 2017

Mugdha Joshi

2

1 reference

19 September 2017

Meghan C Connolly

3

1 reference

19 September 2017

P Ellen Grant

4

1 reference

19 September 2017

Anne R Hansen

5

1 reference

19 September 2017

Omar Khwaja

6

1 reference

19 September 2017

Pankaj B Agrawal

10

1 reference

19 September 2017

28 March 2013

1 reference

19 September 2017

1 reference

19 September 2017

54

1 reference

19 September 2017

5

1 reference

19 September 2017

e81-5

1 reference

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

19 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640694

Clinical application of exome sequencing in undiagnosed genetic conditions

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640694

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640694

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640694

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640694

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640694

Towards a clinico-pathological classification of granule cell dispersion in human mesial temporal lobe epilepsies

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640694

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640694

Intractable seizures from infancy can be associated with dentato-olivary dysplasia

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640694

Polarised localisation of the voltage-gated sodium channel Na(v)1.2 in cerebellar granule cells.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640694

Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3640694

Abnormal axial diffusivity in the deep gray nuclei and dorsal brain stem in infantile spasm treated with vigabatrin

20 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23550958

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/EPI.12137

1 reference

19 September 2017

1 reference

19 September 2017

1 reference