Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. (Q34177297)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

title

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Enrico Bertini

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Nicola Specchio

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Marina Trivisano

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Federico Sicca

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Francesca Darra

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

12

Renzo Guerrini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

13

Federico Vigevano

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Alessandra Terracciano

3

object named as

Alessandra Terracciano

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

7

Lucia Fusco

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

8

Raffaella Cusmai

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

Bernardo Dalla Bernardina

28 January 2020

10

object named as

Bernardo Dalla Bernardina

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

author name string

Carla Marini

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

publication date

11 April 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

page(s)

1251-1257

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21480887%20AND%20SRC:MED&resulttype=core&format=json

Glossary of descriptive terminology for ictal semiology: report of the ILAE task force on classification and terminology.

28 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03063.X

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03063.X

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03063.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03063.X

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03063.X

A new familial form of convulsive disorder and mental retardation limited to females

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03063.X

Protocadherin 19 mutations in girls with infantile-onset epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03063.X

Type II cadherin ectodomain structures: implications for classical cadherin specificity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03063.X

Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03063.X

Epilepsy and mental retardation limited to females: an under-recognized disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03063.X