CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.
about
Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsWhat 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 encephalopathySearching for biomarkers of CDKL5 disorder: early-onset visual impairment in CDKL5 mutant mice.An effective initial polytherapy for children with West syndromeThere is variability in the attainment of developmental milestones in the CDKL5 disorder.Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disordersCDKL5-Related Disorders: From Clinical Description to Molecular Genetics.Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature.Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation.Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.Clinical phenotype of 5 females with a CDKL5 mutation.Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.Functional abilities in children and adults with the CDKL5 disorder.
P2860
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P2860
CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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name
CDKL5 gene-related epileptic e ...... ngs in the first year of life.
@en
CDKL5 gene-related epileptic e ...... ngs in the first year of life.
@nl
type
label
CDKL5 gene-related epileptic e ...... ngs in the first year of life.
@en
CDKL5 gene-related epileptic e ...... ngs in the first year of life.
@nl
prefLabel
CDKL5 gene-related epileptic e ...... ngs in the first year of life.
@en
CDKL5 gene-related epileptic e ...... ngs in the first year of life.
@nl
P2093
P2860
P50
P1476
CDKL5 gene-related epileptic e ...... ings in the first year of life
@en
P2093
Carla Marini
Federico Melani
Renzo Guerrini
P2860
P304
P356
10.1111/J.1469-8749.2010.03889.X
P577
2011-02-11T00:00:00Z