(Q41924751)

14 October 2017

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy (English)

1 reference

14 October 2017

0 references

1 reference

1

1 reference

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6 June 2020

Francesca Darra

2

1 reference

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6 June 2020

Raffaella Cusmai

3

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6 June 2020

Carlo Dionisi-Vici

5

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6 June 2020

9

Renzo Guerrini

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6 June 2020

author name string

Elena Procopio

4

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6 June 2020

Liesbeth Keldermans

6

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6 June 2020

Sandrine Vuillaumier-Barrot

7

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6 June 2020

Dirk J Lefeber

8

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6 June 2020

CDG Group

10

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6 June 2020

publication date

13 May 2016

1 reference

Developmental Medicine and Child Neurology

14 October 2017

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172925%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

volume

58

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6 June 2020

issue

10

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6 June 2020

page(s)

1085-1091

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Congenital disorders of glycosylation

6 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

Congenital disorders of glycosylation with emphasis on cerebellar involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

Neurological aspects of human glycosylation disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

Migrating partial seizures in infancy: a malignant disorder with developmental arrest.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

MutationTaster2: mutation prediction for the deep-sequencing age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

A method and server for predicting damaging missense mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

RFT1 deficiency in three novel CDG patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FDMCN.13141

21 January 2018

Identifiers

DOI

10.1111/DMCN.13141

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27172925%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

1 reference