FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome.

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FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1177/2329048X14568151
P8608Fatcat IDrelease_eeaxgfzhxvg3tgv3wslryob6ci
P932PMC publication ID5417036
P698PubMed publication ID28503589
P5875ResearchGate publication ID276342613

P50authorChristine K ByunQ87535681
P2093author name stringByung Chan Lim
Jong-Hee Chae
Ki Joong Kim
Yong Seung Hwang
Jin Sook Lee
P2860cites workSpecific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.Q37181805
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Q38045465
FOXG1 mutations in Japanese patients with the congenital variant of Rett syndromeQ41934633
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variantQ41937481
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.Q41937721
RettBASE: The IRSA MECP2 variation database-a new mutation database in evolutionQ44889062
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in femalesQ48546504
Rett variants: a suggested model for inclusion criteriaQ50304366
Molecular characteristics of Chinese patients with Rett syndrome.Q51310515
Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work GroupQ69029784
An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001Q78369107
CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndromeQ24303656
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationQ24534159
Rett syndrome: revised diagnostic criteria and nomenclatureQ24596295
FOXG1 is responsible for the congenital variant of Rett syndromeQ24647431
Rett syndrome: clinical review and genetic updateQ24674633
A method and server for predicting damaging missense mutationsQ27860835
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyQ28272644
Key clinical features to identify girls with CDKL5 mutationsQ28293847
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithmQ29547194
A FOXG1 mutation in a boy with congenital variant of Rett syndromeQ33670794
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.Q33910551
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesisQ33924011
On a unusual brain atrophy syndrome in hyperammonemia in childhoodQ34230621
Analysis of FOXG1 Is Highly Recommended in Male and Female Patients with Rett SyndromeQ35546503
FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.Q36006595
14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.Q36404068
Genotyping FOXG1 Mutations in Patients with Clinical Evidence of the FOXG1 SyndromeQ36600641
P433issue1
P921main subjectRett syndromeQ917357
P304page(s)2329048X14568151
P577publication date2015-01-01
P1433published inChild Neurology OpenQ50816853
P1476titleFOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome.
P478volume2

Reverse relations

Q37145746Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delaycites workP2860

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