GABRA1 and STXBP1: novel genetic causes of Dravet syndrome (Q37725930)

22 August 2017

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome (English)

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22 August 2017

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10 June 2020

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10 June 2020

Jacinta M McMahon

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10 June 2020

Brian J O'Roak

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10 June 2020

Deepak Gill

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10 June 2020

Arvid Suls

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10 June 2020

Leanne Dibbens

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Samuel Berkovic

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Ingrid Scheffer

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Lynette G Sadleir

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Heather C Mefford

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Rikke S Møller

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10 June 2020

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Gemma L Carvill

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10 June 2020

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Peter De Jonghe

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Hiltrud Muhle

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Sarah von Spiczak

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10 June 2020

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Corinna Hartmann

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10 June 2020

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Marina Nikanorova

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Eileen Geraghty

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10 June 2020

author name string

Joseph Cook

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10 June 2020

Steve Petrou

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Alison Clarke

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10 June 2020

Bree L Hodgson

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10 June 2020

Elena V Gazina

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10 June 2020

Ingo Helbig

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Helle Hjalgrim

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10 June 2020

language of work or name

English

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publication date

12 March 2014

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22 August 2017

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10 June 2020

volume

82

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10 June 2020

issue

14

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10 June 2020

page(s)

1245-1253

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De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

10 June 2020

cites work

1 reference

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De novo mutations in epileptic encephalopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Rare copy number variants are an important cause of epileptic encephalopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

A functional null mutation of SCN1B in a patient with Dravet syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Fast and accurate short read alignment with Burrows-Wheeler transform

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

The genetics of Dravet syndrome.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

A long-term follow-up study of Dravet syndrome up to adulthood.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

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

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Do mutations in SCN1B cause Dravet syndrome?

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

A novel STXBP1 mutation causes focal seizures with neonatal onset

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4001207

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

1 September 2018

1 reference

12 December 2020

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

1 reference

12 December 2020

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

1 reference

12 December 2020

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

1 reference

12 December 2020

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

1 reference

12 December 2020

10.1212/WNL.0000000000000291

Identifiers

DOI

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10 June 2020

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10 June 2020

PubMed publication ID

24623842

1 reference