Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.
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Sumoylation in Synaptic Function and DysfunctionNINDS epilepsy and autism spectrum disorders workshop reportGABA and glutamate pathways are spatially and developmentally affected in the brain of Mecp2-deficient micemGlu5 positive allosteric modulation normalizes synaptic plasticity defects and motor phenotypes in a mouse model of Rett syndromeThe value of regenotyping older linkage data sets with denser marker panels.SPTAN1 encephalopathy: distinct phenotypes and genotypes.Striatal neurodevelopment is dysregulated in purine metabolism deficiency and impacts DARPP-32, BDNF/TrkB expression and signaling: new insights on the molecular and cellular basis of Lesch-Nyhan Syndrome.Loss of CDKL5 impairs survival and dendritic growth of newborn neurons by altering AKT/GSK-3β signaling.Genetic insights into the functional elements of language.Epilepsy and outcome in FOXG1-related disordersPost-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10Rβ and IFNAR1 genesClinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients.Dysregulation of FOXG1 by ring chromosome 14.Neurobehavioral phenotype in cyclin-dependent kinase-like 5 syndrome: Case report and review of literature.Upregulating endogenous genes by an RNA-programmable artificial transactivator.Matrix Metalloproteinase-9 Regulates Neuronal Circuit Development and ExcitabilityVisual Evoked Potentials in Rett SyndromeMutations in JMJD1C are involved in Rett syndrome and intellectual disability.Genetic forms of epilepsies and other paroxysmal disordersEnrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.RNA activation of haploinsufficient Foxg1 gene in murine neocortex.Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of lifeSynaptic plasticity and signaling in Rett syndrome.Modeling neurodevelopmental disorders using human pluripotent stem cells.Genetic disorders associated with postnatal microcephaly.The genetics of the epilepsies.The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.Impaired Interneuron Development after Foxg1 Disruption.Two Siblings With a CDKL5 Mutation: Genotype and Phenotype Evaluation.Identification of novel genetic causes of Rett syndrome-like phenotypes.Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.Rett syndrome: a neurological disorder with metabolic components.Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.Enhancing Neuronogenesis and Counteracting Neuropathogenic Gene Haploinsufficiencies by RNA Gene Activation.FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome.Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.Utilizing Animal Models of Infantile Spasms.Heterozygous CDKL5 Knockout Female Mice Are a Valuable Animal Model for CDKL5 Disorder.Novel and de novo mutations in pediatric refractory epilepsy
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Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.
description
article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
@gl
artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.
@en
type
label
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.
@en
prefLabel
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.
@en
P2860
P1433
P1476
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies
@en
P2093
Renzo Guerrini
P2860
P304
P356
10.1111/J.1528-1167.2012.03656.X
P577
2012-09-21T00:00:00Z