A novel syndrome of lethal familial hyperekplexia associated with brain malformation (Q30527899)

13 August 2017

A novel syndrome of lethal familial hyperekplexia associated with brain malformation (English)

1 reference

13 August 2017

10

Fowzan S Alkuraya

1 reference

13 August 2017

Mustafa A Salih

2

1 reference

ORCID Public Data File 2021

author name string

Mohammed Zein Seidahmed

1

1 reference

13 August 2017

Omer B Abdulbasit

3

1 reference

13 August 2017

Meeralebbae Shaheed

4

1 reference

13 August 2017

Khalid Al Hussein

5

1 reference

13 August 2017

Abeer M Miqdad

6

1 reference

13 August 2017

Abdullah K Al Rasheed

7

1 reference

13 August 2017

Anas M Alazami

8

1 reference

13 August 2017

Ibrahim A Alorainy

9

1 reference

13 August 2017

27 October 2012

1 reference

13 August 2017

1 reference

13 August 2017

12

1 reference

13 August 2017

125

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2377-12-125

13 August 2017

0 references

cites work

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Function of hyperekplexia-causing α1R271Q/L glycine receptors is restored by shifting the affected residue out of the allosteric signalling pathway

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Congenital microcephaly with a simplified gyral pattern: associated findings and their significance.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

What disorders of cortical development tell us about the cortex: one plus one does not always make two

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Homozygosity mapping: one more tool in the clinical geneticist's toolbox

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

The genetics of hyperekplexia: more than startle!

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Highly effective SNP-based association mapping and management of recessive defects in livestock

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

A FAMILY WITH EMOTIONALLY PRECIPITATEED "DROP SEIZURES"

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Hyperekplexia in the first year of life

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

A mutation in the gene for the neurotransmitter receptor-clustering protein gephyrin causes a novel form of molybdenum cofactor deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Startle disease or hyperekplexia.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Hyperexplexia or stiff baby syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Hyperekplexia: pedigree studies in two families

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

Hyperekplexia and sudden neonatal death

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488335

The startle disease or hyperekplexia. Pathological surprise reaction.

20 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-12-125

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-12-125

Sporadic major hyperekplexia in neonates and infants: clinical manifestations and outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-12-125

Hyperekplexia in a girl with posterior fossa malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-12-125

Hyperekplexia associated with apnea and sudden infant death syndrome

21 January 2018

1 reference

12 December 2020

Hyperekplexia as cause of abnormal intrauterine movements

1 reference

12 December 2020

Complete heart block in nonfamilial hyperekplexia

1 reference

12 December 2020

Hyperekplexia, a cause of neonatal apnea: a case report

1 reference

12 December 2020

ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal

1 reference

12 December 2020

A GPHN point mutation leading to molybdenum cofactor deficiency

1 reference

12 December 2020

Nose Tapping Test Inducing a Generalized Flexor Spasm: A Hallmark of Hyperexplexia

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2377-12-125

1 reference

Dimensions Publication ID

13 August 2017

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1471-2377-12-125

Fatcat ID

release_c5rk7ihdh5ggvb7gijvzicf2qy

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/c5rk7ihdh5ggvb7gijvzicf2qy

24 November 2022

mapped directly with Wikidata item

1 reference

13 August 2017

1 reference