CDKL5 and ARX mutations in males with early-onset epilepsy.
about
Obtaining genetic testing in pediatric epilepsyThere is variability in the attainment of developmental milestones in the CDKL5 disorder.Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Genetic disorders associated with postnatal microcephaly.Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.A novel mutation in the OAR domain of the ARX gene.Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in NF1 and MAGEL2.Functional abilities in children and adults with the CDKL5 disorder.The genetic landscape of infantile spasmsSynaptic Disorders
P2860
Q28082549-EB818E96-D2E5-4683-9733-1C073DD5DD48Q35053870-B39232DC-6524-41CD-B239-F003BA77337CQ35648072-A483B1FD-9A17-4E89-9EC4-8741B03AAA70Q35722175-91205F3C-A6D8-4339-BBDD-ACB6055B6068Q37058511-5137AC98-2739-427E-A368-1ECD3B8E8948Q37356251-2BAE4118-CF5D-4800-94F8-CB9CCBD34649Q38212652-ECC5D2D7-8517-4298-9024-EF196891BB99Q39417475-07E874B3-6314-4674-A537-B6B64695C2BAQ42324263-4F6DB004-1454-4418-9BF5-3350C96666B4Q50631643-0B2C3C5F-7654-4449-9487-8CF040F810CCQ53424114-1B0B5CF0-376F-4CBD-A9AA-67A6B24AAC67Q55017288-F09F1F65-60EC-4E71-8CAF-C375F849357DQ57041043-42A762EA-C7EA-4E83-800D-F3BBF80A5DC1Q57267880-EF9C363A-22FE-4D28-8077-70A42D4C2667
P2860
CDKL5 and ARX mutations in males with early-onset epilepsy.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on May 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
CDKL5 and ARX mutations in males with early-onset epilepsy.
@en
CDKL5 and ARX mutations in males with early-onset epilepsy.
@nl
type
label
CDKL5 and ARX mutations in males with early-onset epilepsy.
@en
CDKL5 and ARX mutations in males with early-onset epilepsy.
@nl
prefLabel
CDKL5 and ARX mutations in males with early-onset epilepsy.
@en
CDKL5 and ARX mutations in males with early-onset epilepsy.
@nl
P2093
P2860
P1433
P1476
CDKL5 and ARX mutations in males with early-onset epilepsy.
@en
P2093
Alex R Paciorkowski
Andrea Paras
Barbara Burton
Berkley R Powell
Elaine C Wirrell
Elizabeth M Berry-Kravis
Eric D Marsh
Ghayda M Mirzaa
Katherine C Nickels
P2860
P304
P356
10.1016/J.PEDIATRNEUROL.2012.12.030
P577
2013-05-01T00:00:00Z