Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy
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 encephalopathyGenetically complex epilepsies, copy number variants and syndrome constellations.CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.Epilepsy and the new cytogenetics.Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disordersExtrasynaptic N-methyl-D-aspartate (NMDA) receptor stimulation induces cytoplasmic translocation of the CDKL5 kinase and its proteasomal degradation.Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.Genetic and biologic classification of infantile spasms.Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.The neuropathological consequences of CDKL5 mutation.CDKL5 alterations lead to early epileptic encephalopathy in both genders.A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons.Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants
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P2860
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy
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2010 nî lūn-bûn
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2010 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
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2010年论文
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name
Xp22.3 genomic deletions invol ...... onset epileptic encephalopathy
@ast
Xp22.3 genomic deletions invol ...... onset epileptic encephalopathy
@en
Xp22.3 genomic deletions invol ...... onset epileptic encephalopathy
@nl
type
label
Xp22.3 genomic deletions invol ...... onset epileptic encephalopathy
@ast
Xp22.3 genomic deletions invol ...... onset epileptic encephalopathy
@en
Xp22.3 genomic deletions invol ...... onset epileptic encephalopathy
@nl
prefLabel
Xp22.3 genomic deletions invol ...... onset epileptic encephalopathy
@ast
Xp22.3 genomic deletions invol ...... onset epileptic encephalopathy
@en
Xp22.3 genomic deletions invol ...... onset epileptic encephalopathy
@nl
P2093
P2860
P50
P1433
P1476
Xp22.3 genomic deletions invol ...... onset epileptic encephalopathy
@en
P2093
Alessandra Murgia
Anna R Ferrari
Bernardo D Bernardina
P2860
P304
P356
10.1111/J.1528-1167.2009.02308.X
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P50
P577
2010-04-01T00:00:00Z