(Q31152022)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

title

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Valerio Conti

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Francesca Moro

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Filippo Muratori

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Filippo Maria Santorelli

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Federico Sicca

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

8

Renzo Guerrini

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

3

Giulia Valvo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

6

Raffaella Tancredi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

publication date

27 February 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

page(s)

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

Somatic overgrowth predisposes to seizures in autism spectrum disorders

9 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

A brief history of autism, the autism/vaccine hypothesis and a review of the genetic basis of autism spectrum disorders.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Macrocephaly as a clinical indicator of genetic subtypes in autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

PTEN signaling in autism spectrum disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

GlialCAM, a protein defective in a leukodystrophy, serves as a ClC-2 Cl(-) channel auxiliary subunit

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Early generalized overgrowth in boys with autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

The beta1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Sibling recurrence and the genetic epidemiology of autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Genetic evaluation and counseling for epilepsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Autism and epilepsy: historical perspective

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

United States head circumference growth reference charts: birth to 21 years

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Advances in autism genetics: on the threshold of a new neurobiology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

GlialCAM, an immunoglobulin-like cell adhesion molecule is expressed in glial cells of the central nervous system

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Rate of head circumference growth as a function of autism diagnosis and history of autistic regression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

The genetics of autistic disorders and its clinical relevance: a review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Pten regulates neuronal arborization and social interaction in mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

The tuberous sclerosis complex (TSC) pathway and mechanism of size control

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

PTEN/MMAC1/TEP1 suppresses the tumorigenicity and induces G1 cell cycle arrest in human glioblastoma cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Regions involved in the opening of CIC-2 chloride channel by voltage and cell volume

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

A chloride channel widely expressed in epithelial and non-epithelial cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

On macrocephaly, epilepsy, autism, specific facial features, and mental retardation.

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-26

Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-26

Macrocephaly in children with autism spectrum disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-26

Evidence of brain overgrowth in the first year of life in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-26

Accelerated head growth in early development of individuals with autism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-26

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-26

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-26

Leukoencephalopathy upon disruption of the chloride channel ClC-2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-26

Osmosensitivity of an inwardly rectifying chloride current revealed by whole-cell and perforated-patch recordings in cultured rat cortical astrocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-26

Astrocytes from mouse brain slices express ClC-2-mediated Cl- currents regulated during development and after injury.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-26

Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-26

Megalencephalic leukoencephalopathy with cysts without MLC1 defect

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Head circumference from birth to eighteen years. Practical composite international and interracial graphs

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3941568

Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24580998

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-15-26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

PubMed publication ID

24580998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24580998%20AND%20SRC:MED&resulttype=core&format=json