A5087156411- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Glycogen Storage Diseases and Myoclonus
- Neuroscience and Neuropharmacology Research
- Ion channel regulation and function
- DNA Repair Mechanisms
- Ion Transport and Channel Regulation
- Diabetes Management and Research
- Epilepsy research and treatment
- Erythrocyte Function and Pathophysiology
- Pancreatic function and diabetes
- Cellular transport and secretion
- Amino Acid Enzymes and Metabolism
- Restless Legs Syndrome Research
- Autoimmune and Inflammatory Disorders Research
- Alcoholism and Thiamine Deficiency
- Metabolism and Genetic Disorders
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Genomics and Rare Diseases
Bambino Gesù Children's Hospital
2024-2025
University College London
2025
University of Padua
2022
Istituto Giannina Gaslini
2018-2019
Istituti di Ricovero e Cura a Carattere Scientifico
2019
University of Genoa
2015
See Lerche (doi:10.1093/brain/awy073) for a scientific commentary on this article.Proline-rich transmembrane protein 2 (PRRT2) is the causative gene heterogeneous group of familial paroxysmal neurological disorders that include seizures with onset in first year life (benign infantile seizures), kinesigenic dyskinesia or combination both. Most PRRT2 mutations are loss-of-function leading to haploinsufficiency and 80% patients carry same frameshift mutation (c.649dupC; p.Arg217Profs*8), which...
Background: Childhood-onset progressive ataxias are rare neurodegenerative disorders characterized by cerebellar signs, sometimes associated with other neurological or extra-neurological features. The autosomal dominant forms, known as spinocerebellar (SCAs), linked to trinucleotide (i.e., CAG) repeat disorders, ultra-rare in children. We describe three patients from two unrelated families affected ataxia type 2 (SCA2) and present a literature review of pediatric cases. Methods: patients’...
Abstract Background Non-selective sodium leak channel (NALCN) protein encoded by the NALCN gene is of key importance for neuronal cell excitability. Previous reports showed that biallelic pathogenic variants cause infantile hypotonia with psychomotor retardation and characteristic facies 1 (IHPRF1) while monoallelic lead to congenital contractures limbs face, hypotonia, developmental delay (CLIFAHDD). In our work, we aimed expand heterozygous NALCN-related clinical spectrum, presenting two...
(1) Background: Cockayne syndrome (CS) is an ultra-rare multisystem disorder, classically subdivided into three forms and characterized by a clinical spectrum without clear genotype-phenotype correlation for both the two causative genes ERCC6 (CS type B) ERCC8 A). We assessed this, presenting series of patients with genetically confirmed CSB. (2) Materials Methods: retrospectively collected demographic, clinical, genetic, neuroimaging, serum neurofilament light-chain (sNFL) data about CSB...