4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.
about
Switching modes in corticogenesis: mechanisms of neuronal subtype transitions and integration in the cerebral cortexClinical review of genetic epileptic encephalopathiesA FOXG1 mutation in a boy with congenital variant of Rett syndrome.The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGHEpilepsy and outcome in FOXG1-related disordersEpilepsy and the new cytogenetics.Dysregulation of FOXG1 by ring chromosome 14.Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.Autism spectrum disorder and epilepsy: Disorders with a shared biology.FOXG1-Related Disorders: From Clinical Description to Molecular Genetics.14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.Genetic variations and associated pathophysiology in the management of epilepsy.Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.Genetic and biologic classification of infantile spasms.Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.An 18.3-Mb Duplication on Chromosome 14q With Multiple Cardiac Anomalies and Clubfoot Was Identified by Microarray Analysis.Questionable pathogenicity of FOXG1 duplication.Do regulatory regions matter in FOXG1 duplications?Tonic seizures of Lennox-Gastaut syndrome: periictal single-photon emission computed tomography suggests a corticopontine network.Reply to Amor et al.An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.Regulatory variants of FOXG1 in the context of its topological domain organisation.Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause.Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.West syndrome associated with mosaic duplication ofFOXG1in a patient with maternal uniparental disomy of chromosome 14
P2860
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P2860
4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
2009年论文
@zh
2009年论文
@zh-cn
name
4.45 Mb microduplication in ch ...... y and intellectual impairment.
@en
type
label
4.45 Mb microduplication in ch ...... y and intellectual impairment.
@en
prefLabel
4.45 Mb microduplication in ch ...... y and intellectual impairment.
@en
P2093
P1476
4.45 Mb microduplication in ch ...... y and intellectual impairment.
@en
P2093
Alison Yeung
Damien Bruno
Daniel Carranza
David J Amor
Howard R Slater
Ingrid E Scheffer
Trent Burgess
P304
P356
10.1016/J.EJMG.2009.09.004
P577
2009-09-20T00:00:00Z