Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.
about
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathyWhat 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 encephalopathyNeurodevelopmental 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 Mouse
P2860
Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.
description
2010 nî lūn-bûn
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name
Epileptic encephalopathy in a ...... and exon 1 of the CDKL5 gene.
@en
Epileptic encephalopathy in a ...... and exon 1 of the CDKL5 gene.
@nl
type
label
Epileptic encephalopathy in a ...... and exon 1 of the CDKL5 gene.
@en
Epileptic encephalopathy in a ...... and exon 1 of the CDKL5 gene.
@nl
prefLabel
Epileptic encephalopathy in a ...... and exon 1 of the CDKL5 gene.
@en
Epileptic encephalopathy in a ...... and exon 1 of the CDKL5 gene.
@nl
P2093
P356
P1476
Epileptic encephalopathy in a ...... and exon 1 of the CDKL5 gene.
@en
P2093
Agnes Gautier
Benoit Girard
Jamel Chelly
Juliette Nectoux
Thierry Bienvenu
Yann Fichou
Yoann Saillour
P304
P356
10.1002/AJMG.B.30974
P577
2010-01-01T00:00:00Z