Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. (Q54590725)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

title

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Dirk Goossens

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Kristl G Claeys

2

0 references

author name string

Boris Harding

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Rob Van Luijk

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Stefaan Scheers

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Liesbet Deprez

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Dominique Audenaert

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Tine Van Dyck

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Sabine Beeckmans

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Iris Smouts

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Berten Ceulemans

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Lieven Lagae

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Gunnar Buyse

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Nina Barisic

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Jean-Paul Misson

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Jan Wauters

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Jurgen Del-Favero

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Peter De Jonghe

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

Lieve R F Claes

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

publication date

1 September 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

page(s)

914-920

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

27 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

7 January 2021

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

7 January 2021

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

7 January 2021

SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

7 January 2021

A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

7 January 2021

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

7 January 2021

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

7 January 2021

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

7 January 2021

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

7 January 2021

Refractory photosensitive epilepsy associated with a complex rearrangement of chromosome 2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

7 January 2021

novoSNP, a novel computational tool for sequence variation discovery

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20350

7 January 2021

Identifiers

DOI

10.1002/HUMU.20350

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16865694%20AND%20SRC:MED&resulttype=core&format=json

27 December 2019

1 reference