(Q30418208)

17 August 2017

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. (English)

1 reference

17 August 2017

1

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17 August 2017

20

James R Lupski

1 reference

17 August 2017

21

Pawel Stankiewicz

1 reference

Malgorzata J. M. Nowaczyk

17 August 2017

14

object named as

Malgorzata J M Nowaczyk

1 reference

17 August 2017

17

Bassem A Bejjani

1 reference

17 August 2017

3

Patricia Hixson

1 reference

17 August 2017

16

Jill A Rosenfeld

1 reference

17 August 2017

22

Fernando Scaglia

1 reference

17 August 2017

19

Sau Wai Cheung

1 reference

17 August 2017

Svetlana A Yatsenko

2

1 reference

17 August 2017

Tyler Reimschisel

4

1 reference

17 August 2017

Matthew Thomas

5

1 reference

17 August 2017

William Wilson

6

1 reference

17 August 2017

Usha Dayal

7

1 reference

17 August 2017

James W Wheless

8

1 reference

17 August 2017

Amy Crunk

9

1 reference

17 August 2017

Cynthia Curry

10

1 reference

17 August 2017

Nicole Parkinson

11

1 reference

17 August 2017

Leona Fishman

12

1 reference

17 August 2017

James J Riviello

13

1 reference

17 August 2017

Susan Zeesman

15

1 reference

17 August 2017

Lisa G Shaffer

18

1 reference

17 August 2017

language of work or name

English

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publication date

21 June 2012

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17 August 2017

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17 August 2017

14

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17 August 2017

10

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17 August 2017

868-876

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A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Clan genomics and the complex architecture of human disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Solving the autism puzzle a few pieces at a time

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Intellectual disability without epilepsy associated with STXBP1 disruption

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Characterising and predicting haploinsufficiency in the human genome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Functional impact of global rare copy number variation in autism spectrum disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

The functional organization and assembly of the axon initial segment.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Munc18a controls SNARE assembly through its interaction with the syntaxin N-peptide

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Intragenic Cis and Trans modification of genetic susceptibility in DYT1 torsion dystonia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Activation-induced cytidine deaminase (AID) can target both DNA strands when the DNA is supercoiled

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Synaptic vesicle fusion complex contains unc-18 homologue bound to syntaxin

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

The early-infantile epileptic encephalopathy with suppression-burst: developmental aspects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

28 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.65

Epileptic encephalopathies in early infancy with suppression-burst

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.65

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.65

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.65

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.65

De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.65

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.65

rop, a Drosophila homolog of yeast Sec1 and vertebrate n-Sec1/Munc-18 proteins, is a negative regulator of neurotransmitter release in vivo.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.65

alphaII-spectrin is essential for assembly of the nodes of Ranvier in myelinated axons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.65

Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.65

Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2012.65

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713627

Paternal mosaicism of an STXBP1 mutation in OS

26 November 2018

1 reference

12 December 2020

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study

1 reference

12 December 2020

Symptomatic children with hereditary hemorrhagic telangiectasia: a pediatric center experience

1 reference

12 December 2020

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene

1 reference

12 December 2020

Identifiers

DOI

10.1038/GIM.2012.65

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

22722545

1 reference