A5054857057- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Autism Spectrum Disorder Research
- Tuberous Sclerosis Complex Research
- Glycogen Storage Diseases and Myoclonus
- Electroconvulsive Therapy Studies
- Polyomavirus and related diseases
- Genomics and Rare Diseases
- Autoimmune Neurological Disorders and Treatments
- Skin and Cellular Biology Research
- Genetic Neurodegenerative Diseases
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Bipolar Disorder and Treatment
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA Research and Splicing
- RNA modifications and cancer
- Schizophrenia research and treatment
- RNA and protein synthesis mechanisms
- PI3K/AKT/mTOR signaling in cancer
- Neurological disorders and treatments
- Lysosomal Storage Disorders Research
- Child Development and Digital Technology
- Child Nutrition and Feeding Issues
- Histiocytic Disorders and Treatments
Istituti di Ricovero e Cura a Carattere Scientifico
2000-2024
Oasi Maria SS
1998-2024
I.R.C.C.S. Oasi Maria SS
2010-2015
<b>Objective: </b> To search for <i>CDKL5</i> gene mutations in boys presenting with severe early-onset encephalopathy and intractable epilepsy, a clinical picture very similar to that already described girls mutations. <b>Methods: Eight (age range 3–16 years, mean age 8.5 SD 4.38) or profound mental retardation seizures were selected mutation screening by denaturing high-performance liquid chromatography analysis. <b>Results: We found three unrelated carrying different missense of the gene:...
Abstract Postsynaptic density (PSD) proteins have been implicated in the pathophysiology of neurodevelopmental and psychiatric disorders. Here, we present detailed clinical genetic data for 20 patients with likely gene-disrupting mutations TANC2 —whose protein product interacts multiple PSD proteins. Pediatric disruptive autism, intellectual disability, delayed language motor development. In addition to a variable degree epilepsy facial dysmorphism, observe pattern more complex dysfunction...
Numerous neuropathologic and imaging studies have reported different structural abnormalities in the brains of autistic subjects. However, whether or not degree brain abnormality is correlated with severity developmental impairment disorder still unknown. The midsagittal area cerebrum, corpus callosum, midbrain, cerebellar vermis, vermal lobules VI VII was measured by means magnetic resonance 22 boys low-functioning 11 age-matched normal controls. Morphometric measures were statistically...
To describe a European family with cortical tremor, epilepsy, and mental retardation, the pedigree of which indicates an autosomal dominant inheritance disease.Clinical, laboratory, neurophysiological, neuroimaging data were studied.Institute for research on retardation.Two siblings (aged 25 28 years) their 49-year-old mother had postural action seizures, retardation. Only tremor was present in maternal grandmother 68 years). The electroencephalogram showed diffuse spike-and-wave complexes...
In the last two decades neurological research has significantly increased knowledge on neuroanatomic bases of autism. Several autopsy and quantitative magnetic resonance imaging (MRI) studies have reported central nervous system (CNS) abnormalities which may underlie social, language cognitive dysfunction typical autistic disorder. Despite wealth evidence that “autistic brain” is different from normal in a number structures, relationship between severity developmental impairment autism...
article: A small blackberry-like nodule on the nipple in a pregnant affected by tuberous sclerosis complex - Giornale Italiano di Dermatologia e Venereologia 2020 December;155(6):799-800 Minerva Medica Journals