(Q48496205)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22623405%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

PRRT2 mutations are the major cause of benign familial infantile seizures (English)

1 reference

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2 February 2020

27

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2 February 2020

Federico Zara

35

1 reference

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Bernardo Dalla Bernardina

2 February 2020

9

object named as

Bernardo Dalla Bernardina

1 reference

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2 February 2020

author name string

Julian Schubert

1

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2 February 2020

Roberta Paravidino

2

1 reference

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2 February 2020

Felicitas Becker

3

1 reference

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2 February 2020

Andrea Berger

4

1 reference

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2 February 2020

Nerses Bebek

5

1 reference

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2 February 2020

Amedeo Bianchi

6

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2 February 2020

Knut Brockmann

7

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2 February 2020

Giuseppe Capovilla

8

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2 February 2020

Yukio Fukuyama

10

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2 February 2020

Georg F Hoffmann

11

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2 February 2020

Karin Jurkat-Rott

12

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2 February 2020

Anna-Kaisa Anttonen

13

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2 February 2020

Gerhard Kurlemann

14

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2 February 2020

Frank Lehmann-Horn

16

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2 February 2020

Massimo Mastrangelo

17

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2 February 2020

Ulrike Mause

18

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2 February 2020

Stephan Müller

19

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2 February 2020

Bernd Neubauer

20

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2 February 2020

Burkhard Püst

21

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2 February 2020

Dietz Rating

22

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2 February 2020

Angela Robbiano

23

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2 February 2020

Susanne Ruf

24

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2 February 2020

Christopher Schroeder

25

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2 February 2020

Andreas Seidel

26

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2 February 2020

Ulrich Stephani

28

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2 February 2020

Pasquale Striano

29

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2 February 2020

Jens Teichler

30

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2 February 2020

Dilsad Turkdogan

31

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2 February 2020

Federico Vigevano

32

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2 February 2020

Maurizio Viri

33

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2 February 2020

Peter Bauer

34

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2 February 2020

Holger Lerche

36

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2 February 2020

Yvonne G Weber

37

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2 February 2020

Anna-Elina Lehesjoki

15

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2 February 2020

publication date

11 June 2012

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2 February 2020

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2 February 2020

volume

33

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2 February 2020

page(s)

1439-1443

1 reference

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2 February 2020

issue

10

1 reference

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Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome

2 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Tandem duplication/triplication correlated with poly-cytosine stretch variation in human mitochondrial DNA D-loop region

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Genetic mechanisms in idiopathic epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

Refinement of the chromosome 16 locus for benign familial infantile convulsions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

7 January 2021

Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

7 January 2021

Benign infantile familial convulsions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

7 January 2021

Benign complex partial epilepsies in infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

7 January 2021

Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

7 January 2021

A BFIS-like syndrome with late onset and febrile seizures: suggestive linkage to chromosome 16p11.2-16q12.1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

7 January 2021

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22126

7 January 2021

Identifiers

DOI

10.1002/HUMU.22126

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22623405%20AND%20SRC:MED&resulttype=core&format=json

release_tdnxyv4ma5bdhfbmmoedicbigm

2 February 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tdnxyv4ma5bdhfbmmoedicbigm

24 November 2022

mapped directly with Wikidata item

1 reference

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