Virginia Pironi
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View article: DDX3X syndrome: a multicenter genotype-phenotype study
DDX3X syndrome: a multicenter genotype-phenotype study Open
DDX3X dysfunction causes an X-linked multisystem disorder with high penetrance and variable expressivity. The phenotypic spectrum spans from learning disability without somatic involvement to profound intellectual disability with severe im…
View article: Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies
Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies Open
Achondroplasia (ACH), the most common form of skeletal dysplasia, is characterized by severe disproportionate short stature, rhizomelia, exaggerated lumbar lordosis, brachydactyly, macrocephaly with frontal bossing and midface hypoplasia. …
View article: Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. Brain Sci. 2020, 10, 889”
Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on “De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. Brain Sci. 2020, 10, 889” Open
It has been an honor for us to receive a comment on our article “Fatal Status Epilepticus in Dravet Syndrome” [...]
View article: Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study
Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study Open
KBG syndrome (KBGS) is a rare Mendelian condition caused by heterozygous mutations in ANKRD11 or microdeletions in chromosome 16q24.3 encompassing the gene. KBGS is clinically variable, which makes its diagnosis difficult in a significant …
View article: Fatal Status Epilepticus in Dravet Syndrome
Fatal Status Epilepticus in Dravet Syndrome Open
Dravet Syndrome (DS) is burdened by high epilepsy-related premature mortality due to status epilepticus (SE). We surveyed centres within Europe through the Dravet Italia Onlus and EpiCARE network (European Reference Network for Rare and Co…