(Q50736850)

English

Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.

scientific article published on 5 November 2012

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences. (English)

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

episodic ataxia

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

1

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

Antonio Gambardella

9

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

8

object named as

Grazia Annesi

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

Patrizia Tarantino

2

object named as

Patrizia Tarantino

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

author name string

Maurizio Viri

3

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

Laura Mumoli

4

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

Monica Gagliardi

5

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

Antonino Romeo

6

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

Federico Zara

7

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

publication date

5 November 2012

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

53

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

12

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

e196-9

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12009

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12009

21 January 2018

Candidate gene studies of ADHD: a meta-analytic review

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12009

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12009

21 January 2018

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12009

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12009

21 January 2018

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12009

21 January 2018

PRRT2 mutations are the major cause of benign familial infantile seizures.

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12009

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12009

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FEPI.12009

21 January 2018

Identifiers

10.1111/EPI.12009

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 March 2018

http://europepmc.org/abstract/MED/23126439

ResearchGate publication ID

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