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Genetic Basis of Brain MalformationsPeriventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneExpression of Tsga10 sperm tail protein in embryogenesis and neural development: from cilium to cell divisionAssociation of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of functionAutism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.Albuminuria and glomerular damage in mice lacking the metabotropic glutamate receptor 1.A versatile clearing agent for multi-modal brain imagingComputer-based automatic identification of neurons in gigavoxel-sized 3D human brain images.Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.A top-down linguistic approach to the analysis of genomic sequences: The metabotropic glutamate receptors 1 and 5 in human and in mouse as a case study.Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.Multimodal fiber-probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children.Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.The landscape of epilepsy-related GATOR1 variantsCorpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARXContractions in the second polyA tract of ARX are rare, non-pathogenic polymorphismsCorrection to: The landscape of epilepsy-related GATOR1 variantsC620R mutation of the murineret proto-oncogene: Loss of function effect in homozygotes and possible gain of function effect in heterozygotesMultiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneityCorrection: The landscape of epilepsy-related GATOR1 variantsGenomic DNA methylation distinguishes subtypes of human focal cortical dysplasia
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description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Valerio Conti
@en
Valerio Conti
@nl
type
label
Valerio Conti
@en
Valerio Conti
@nl
prefLabel
Valerio Conti
@en
Valerio Conti
@nl
P31
P496
0000-0002-8326-6378