(Q34695378)

4 August 2017

title

Epilepsy and outcome in FOXG1-related disorders (English)

1 reference

4 August 2017

5

1 reference

4 August 2017

Laurie E Seltzer

1

1 reference

4 August 2017

Mandy Ma

2

1 reference

4 August 2017

Sohnee Ahmed

3

1 reference

4 August 2017

Mary Bertrand

4

1 reference

4 August 2017

James Wheless

6

1 reference

4 August 2017

Alex R Paciorkowski

7

1 reference

4 August 2017

language of work or name

1 reference

16 May 2014

1 reference

4 August 2017

1 reference

4 August 2017

volume

55

1 reference

4 August 2017

issue

8

1 reference

4 August 2017

page(s)

1292-1300

1 reference

14q12 duplication including FOXG1: is there a common age-dependent epileptic phenotype?

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

A genetic diagnostic approach to infantile epileptic encephalopathies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

Genes of early-onset epileptic encephalopathies: from genotype to phenotype

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

Genetic and biologic classification of infantile spasms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

Neurodevelopmental and epilepsy outcomes in a North American cohort of patients with infantile spasms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

Favourable prognostic factors with infantile spasms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

The genetics of early telencephalon patterning: some assembly required

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

A retrospective study on aetiology based outcome of infantile spasms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

FOXG1 is responsible for the congenital variant of Rett syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

Excess FoxG1 causes overgrowth of the neural tube

7 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FEPI.12648

Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1111%2FEPI.12648

A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

Emx2 and Foxg1 inhibit gliogenesis and promote neuronogenesis

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265461

West syndrome associated with 14q12 duplications harboring FOXG1

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24836831

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24836831

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/EPI.12648

1 reference

4 August 2017

1 reference

4 August 2017

1 reference