(Q28211213)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

3

1 reference

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10 November 2019

Samuel Berkovic

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

Ingrid Scheffer

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

R Singh

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

E Andermann

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

A S Harvey

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

D L Keene

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

M H Seni

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

K M Crossland

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

F Andermann

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

language of work or name

English

0 references

publication date

1 July 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

837-844

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11488881%20AND%20SRC:MED&resulttype=core&format=json

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

Validation of a questionnaire for clinical seizure diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

Clinical and neuropathologic findings in a case of severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

A potassium channel mutation in neonatal human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

Ion channels and neurological disease: DNA based diagnosis is now possible, and ion channels may be important in common paroxysmal disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X

Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.042007837.X