Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Management of infantile spasmsRecent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceConvulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.SPTAN1 encephalopathy: distinct phenotypes and genotypes.Molecular and genetic insights into an infantile epileptic encephalopathy - CDKL5 disorder.A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrumEpilepsy and outcome in FOXG1-related disordersAnalysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.The use of ketogenic diet in special situations: expanding use in intractable epilepsy and other neurologic disordersRecurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathyPhenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.Genetic forms of epilepsies and other paroxysmal disordersSpectrin Breakdown Products (SBDPs) as Potential Biomarkers for Neurodegenerative DiseasesElectroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patientFunctional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.Pharmacological Analysis of the Anti-epileptic Mechanisms of Fenfluramine in scn1a Mutant Zebrafish.Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Diagnosis and management of epileptic encephalopathies in children.Actual insights into the clinical management of febrile seizures.Pathophysiology of epileptic encephalopathies.Clinical management of epileptic encephalopathies of childhood and infancy.The genetics of the epilepsies.Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells.Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome.Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.De novo KCNT1 mutations in early-onset epileptic encephalopathy.Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy.Fenfluramine diminishes NMDA receptor-mediated seizures via its mixed activity at serotonin 5HT2A and type 1 sigma receptors.
P2860
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P2860
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
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artículo científico
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name
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
@en
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
@nl
type
label
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
@en
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
@nl
prefLabel
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
@en
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
@nl
P1433
P1476
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
@en
P356
10.1016/J.PEDIATRNEUROL.2011.11.003
P577
2012-01-01T00:00:00Z