Genetic and biologic classification of infantile spasms.
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Management of infantile spasmsBasic mechanisms of catastrophic epilepsy -- overview from animal modelsSCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolismAutosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.The class 4 semaphorin Sema4D promotes the rapid assembly of GABAergic synapses in rodent hippocampusNeonatal estradiol stimulation prevents epilepsy in Arx model of X-linked infantile spasms syndrome.SPTAN1 encephalopathy: distinct phenotypes and genotypes.WDR45 mutations in three male patients with West syndrome.Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathiesA genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletionFemale hormones prevent a catastrophic epilepsy in male miceInfantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents.Epilepsy and outcome in FOXG1-related disordersAssociation analysis of polymorphisms of the CRHR1 gene with infantile spasms.Autism spectrum disorder and epilepsy: Disorders with a shared biology.A practical, simple, and useful method of categorizing interictal EEG features in children.Epi4K: gene discovery in 4,000 genomes.Genetic forms of epilepsies and other paroxysmal disordersCDKL5 and ARX mutations in males with early-onset epilepsy.Epileptic Encephalopathy in Infants and ChildrenWest syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1Prenatal corticosteroids modify glutamatergic and GABAergic synapse genomic fabric: insights from a novel animal model of infantile spasmsMechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES).Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.Latest American and European updates on infantile spasms.Diagnosis and management of epileptic encephalopathies in children.Clinical management of epileptic encephalopathies of childhood and infancy.Infantile spasm: a review article.The genetics of the epilepsies.Neonatal and Infantile Epilepsy: Acquired and Genetic Models.APC conditional knock-out mouse is a model of infantile spasms with elevated neuronal β-catenin levels, neonatal spasms, and chronic seizures.West syndrome associated with a novel chromosomal anomaly; partial trisomy 8P together with partial monosomy 9P, resulting from a familial unbalanced reciprocal translocationInfantile spasms: treatment challenges.De novo DNM1 mutations in two cases of epileptic encephalopathy.Knockin' Out the Spasms.How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium.West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation.West syndrome treatment: new roads for an old syndromeSpectrum of neurodevelopmental disabilities: a cohort study in hungary.Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
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P2860
Genetic and biologic classification of infantile spasms.
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
@sq
artículo científico
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name
Genetic and biologic classification of infantile spasms.
@en
Genetic and biologic classification of infantile spasms.
@nl
type
label
Genetic and biologic classification of infantile spasms.
@en
Genetic and biologic classification of infantile spasms.
@nl
prefLabel
Genetic and biologic classification of infantile spasms.
@en
Genetic and biologic classification of infantile spasms.
@nl
P2860
P1433
P1476
Genetic and biologic classification of infantile spasms.
@en
P2093
Alex R Paciorkowski
Liu Lin Thio
P2860
P304
P356
10.1016/J.PEDIATRNEUROL.2011.08.010
P577
2011-12-01T00:00:00Z