PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures (Q36439209)

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English	PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures	scientific article

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3511925

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14 August 2017

title

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures (English)

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14 August 2017

author

Hadassa Goldberg-Stern

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7

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Hadassa Goldberg-Stern

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14 August 2017

Samuel Berkovic

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Samuel F Berkovic

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13

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Ingrid Scheffer

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1

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Ingrid E Scheffer

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Renzo Guerrini

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10

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Renzo Guerrini

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Europe PubMed Central

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3511925

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Lynette Sadleir

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12

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Lynette G Sadleir

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3511925

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14 August 2017

Leanne Dibbens

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14

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Leanne M Dibbens

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Europe PubMed Central

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3511925

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14 August 2017

Bronwyn E Grinton

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2

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Bronwyn E Grinton

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3511925

Sara Kivity

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4

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Sara Kivity

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3511925

Zaid Afawi

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5

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Zaid Afawi

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3511925

Carla Marini

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11

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Carla Marini

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Europe PubMed Central

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3511925

author name string

Sarah E Heron

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3

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Europe PubMed Central

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3511925

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14 August 2017

Xenia Iona

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6

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3511925

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14 August 2017

Maria Kinali

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8

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3511925

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14 August 2017

Ian Andrews

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9

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Europe PubMed Central

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3511925

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14 August 2017

language of work or name

English

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publication date

17 October 2012

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Europe PubMed Central

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3511925

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14 August 2017

published in

Neurology

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volume

79

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issue

21

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page(s)

2104-2108

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cites work

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

1 reference

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PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

30 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

30 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

30 September 2017

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

30 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

30 September 2017

Benign familial infantile seizures

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

30 September 2017

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

30 September 2017

Clinical features of benign convulsions with mild gastroenteritis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

30 September 2017

Epilepsy and paroxysmal movement disorders in families: evidence for shared mechanisms

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

30 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

30 September 2017

Electroclinical features of benign infantile seizures with mild gastroenteritis.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

28 June 2018

Benign infantile seizures: a prospective study

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

21 September 2018

Benign familial and non-familial infantile seizures (Fukuyama-Watanabe-Vigevano syndrome): a study of 14 cases from Saudi Arabia.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

21 September 2018

Benign familial and non-familial infantile seizures: a study of 64 patients.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

21 September 2018

Validation of a questionnaire for clinical seizure diagnosis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3511925

retrieved

21 September 2018

Benign infantile familial convulsions

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23077018

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/23077018

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1212/WNL.0B013E3182752C6C

1 reference

stated in

Europe PubMed Central

PMC publication ID

3511925

retrieved

14 August 2017

PMC publication ID

3511925

1 reference

stated in

Europe PubMed Central

PMC publication ID

3511925

retrieved

14 August 2017

PubMed publication ID

23077018

1 reference

stated in

Europe PubMed Central

PMC publication ID

3511925

retrieved

14 August 2017

 

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