Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
about
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyThere is variability in the attainment of developmental milestones in the CDKL5 disorder.Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.Characterisation of CDKL5 Transcript Isoforms in Human and MouseGenetic forms of epilepsies and other paroxysmal disordersCDKL5 and ARX mutations in males with early-onset epilepsy.Multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis.Genetics, molecular biology, and phenotypes of x-linked epilepsy.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.The neuropathological consequences of CDKL5 mutation.A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS.Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.Clinical phenotype of 5 females with a CDKL5 mutation.Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.Functional abilities in children and adults with the CDKL5 disorder.High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
P2860
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P2860
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
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name
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
@en
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
@nl
type
label
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
@en
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
@nl
prefLabel
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
@en
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
@nl
P2093
P2860
P1433
P1476
Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females
@en
P2093
Agnieszka Szpecht-Potocka
Ayelet Erez
Ewa Bocian
Ewa Obersztyn
Hanna Mierzewska
Katarzyna Derwińska
Katarzyna E Kołodziejska
Magdalena Bartnik
Monika Gos
Naomi J Lohr
P2860
P2888
P304
P356
10.1097/GIM.0B013E31820605F5
P407
P577
2011-05-01T00:00:00Z
P6179
1046940431