(Q35671504)

9 August 2017

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

1 reference

benign familial infantile epilepsy

9 August 2017

1 reference

1 reference

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19

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9 August 2017

Hadassa Goldberg-Stern

13

Hadassa Goldberg-Stern

1 reference

9 August 2017

Sarah E Heron

1

0 references

Eric Herlenius

Eric Herlenius

12

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Ingrid Scheffer

Ingrid E Scheffer

23

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Samuel Berkovic

Samuel F Berkovic

22

0 references

Amos D. Korczyn

Amos D Korczyn

16

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Sameer M Zuberi

5

Sameer M Zuberi

1 reference

9 August 2017

10

Lynette G Sadleir

1 reference

9 August 2017

24

Leanne M Dibbens

1 reference

9 August 2017

11

James Pelekanos

1 reference

9 August 2017

2

Bronwyn E Grinton

1 reference

9 August 2017

3

Sara Kivity

1 reference

9 August 2017

4

Zaid Afawi

1 reference

9 August 2017

James N Hughes

6

1 reference

9 August 2017

Clair Pridmore

7

1 reference

9 August 2017

Bree L Hodgson

8

1 reference

9 August 2017

Xenia Iona

9

1 reference

9 August 2017

Haim Bassan

14

1 reference

9 August 2017

Eric Haan

15

1 reference

9 August 2017

Alison E Gardner

17

1 reference

9 August 2017

Mark A Corbett

18

1 reference

9 August 2017

Paul Q Thomas

20

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9 August 2017

John C Mulley

21

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9 August 2017

language of work or name

English

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publication date

1 January 2012

1 reference

American Journal of Human Genetics

9 August 2017

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9 August 2017

90

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9 August 2017

152-160

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9 August 2017

1

1 reference

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

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

The borderland of epilepsy: clinical and molecular features of phenomena that mimic epileptic seizures

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

A human protein-protein interaction network: a resource for annotating the proteome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

Easy calculations of lod scores and genetic risks on small computers

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

Validation of a questionnaire for clinical seizure diagnosis

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3257886

A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12-p35.1.

25 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome

1 reference

12 December 2020

Proposed genetic classification of the “benign” familial neonatal and infantile epilepsies

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Refinement of the chromosome 16 locus for benign familial infantile convulsions

1 reference

12 December 2020

10.1016/J.AJHG.2011.12.003

Identifiers

DOI

1 reference

9 August 2017

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9 August 2017

1 reference