Clinical phenotype of 5 females with a CDKL5 mutation.

Clinical phenotype of 5 females with a CDKL5 mutation.

Item
http://www.wikidata.org/entity/Q54252592
What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathyThe CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyPrevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndromeThe Quality of Life in Girls with Rett SyndromeSearching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice.CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.There is variability in the attainment of developmental milestones in the CDKL5 disorder.Genetics, molecular biology, and phenotypes of x-linked epilepsy.CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice.The neuropathological consequences of CDKL5 mutation.
P2860

Clinical phenotype of 5 females with a CDKL5 mutation.

Item
http://www.wikidata.org/entity/Q54252592
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-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
@zh
2011年學術文章
@zh-hant
name
Clinical phenotype of 5 females with a CDKL5 mutation.
@en
Clinical phenotype of 5 females with a CDKL5 mutation.
@nl
type
label
Clinical phenotype of 5 females with a CDKL5 mutation.
@en
Clinical phenotype of 5 females with a CDKL5 mutation.
@nl
prefLabel
Clinical phenotype of 5 females with a CDKL5 mutation.
@en
Clinical phenotype of 5 females with a CDKL5 mutation.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Clinical phenotype of 5 females with a CDKL5 mutation.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698