Martino Montomoli
A5040872292- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Epilepsy research and treatment
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- RNA regulation and disease
- Biochemical and Molecular Research
- RNA and protein synthesis mechanisms
- Biotin and Related Studies
- Fetal and Pediatric Neurological Disorders
- Lysosomal Storage Disorders Research
- Diet and metabolism studies
- Prenatal Screening and Diagnostics
- Connective tissue disorders research
- RNA Research and Splicing
- Genetic Neurodegenerative Diseases
- Cell Adhesion Molecules Research
- Trypanosoma species research and implications
- Diabetes Treatment and Management
- Connexins and lens biology
- Genetic Associations and Epidemiology
- interferon and immune responses
Meyer Children's Hospital
2016-2024
University of Florence
2016-2023
Cleveland Clinic Lerner College of Medicine
2020
University of Pavia
2020
University of Groningen
2018
The University of Melbourne
2018
University Medical Center Groningen
2018
Austin Health
2018
University of Southern Denmark
2018
Bambino Gesù Children's Hospital
2018
To delineate the epileptology, a key part of
Targeted resequencing gene panels are used in the diagnostic setting to identify defects epilepsy. We performed targeted using a 30-genes panel and 95-genes 349 patients with drug-resistant epilepsies beginning first years of life. identified 71 pathogenic variants, 42 which novel, 30 genes, corresponding 20.3% probands. In 66% mutation positive patients, epilepsy onset occurred before age 6 months. The allowed genetic diagnosis 22 (6.3%) that would have otherwise been missed 30-gene panel....
To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558).Twenty-two patients, aged 19 months to 22 years, underwent assessment.Sixteen patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age 4 months, followed by slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, severe gastrointestinal symptoms (15/22), worsening...
<h3>Objective:</h3> To describe better the motor phenotype, molecular genetic features, and clinical course of <i>GNAO1</i>-related disease. <h3>Methods:</h3> We reviewed information, video recordings, neuroimaging a newly identified cohort 7 patients with de novo missense splice site <i>GNAO1</i> mutations, detected by next-generation sequencing techniques. <h3>Results:</h3> Patients first presented in early childhood (median age presentation 10 months, range 0–48 months), wide symptoms...
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding non-erythrocyte αII spectrin, have been associated with severe West syndrome hypomyelination pontocerebellar atrophy. We aimed at comprehensively delineating phenotypic spectrum mutations. Using different molecular genetic techniques, we identified 20 patients a pathogenic or likely variant reviewed their clinical, imaging data. de alterations included seven unique missense variants nine deletions/duplications of which...
Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency one or more OXPHOS complexes. Here, we report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy stroke-like episodes. Multiple defects decreased mtDNA copy number (40%) were detected muscle homogenate. Clinical features combined low level plasma citrulline highly suggestive encephalopathy, lactic acidosis episodes (MELAS) syndrome,...
Objective The term ‘precision medicine’ describes a rational treatment strategy tailored to one person that reverses or modifies the disease pathophysiology. In epilepsy, single case and small cohort reports document nascent precision medicine strategies in specific genetic epilepsies. aim of this multicentre observational study was investigate deeper complexity epilepsy. Methods A systematic survey patients with epilepsy molecular diagnosis conducted six tertiary centres including children...
COL4A1/2 variants are associated with highly variable multiorgan manifestations. Depicting the whole clinical spectrum of COL4A1/2-related manifestations is challenging, and there no consensus on management preventative strategies. Based a systematic review current evidence disease, we developed questionnaire that administered to 43 individuals from 23 distinct families carrying pathogenic variants. In this cohort, extended ophthalmological cardiological examinations asymptomatic those only...
Abstract Objective We aimed to delineate the phenotypic spectrum and long‐term outcome of individuals with KCNB1 encephalopathy. Methods collected genetic, clinical, electroencephalographic, imaging data pathogenic variants recruited through an international collaboration, support family association “KCNB1 France.” Patients were classified as having developmental epileptic encephalopathy (DEE) or (DE). In addition, we reviewed published cases provided in patients older than 12 years from our...
PurposePathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features described for 11 patients (likely) pathogenic sequence variants. This study aims to further delineate the spectrum of SETD1B-related syndrome based on characterizing an expanded patient cohort.MethodsWe perform in-depth characterization cohort 36 unpublished individuals variants, describing their...
The sodium-dependent multivitamin transporter (hSMVT) encoded by the SLC5A6 gene is required for intestinal absorption of biotin, pantothenic acid and lipoate, three micronutrients essential normal growth development. Systemic deficiency these elements, either occurring from nutritional causes or genetic defects, associated with neurological disorders, delay, skin hair changes, metabolic immunological abnormalities. A few patients biallelic variants have been reported, exhibiting a spectrum...
PNPO deficiency is responsible of severe neonatal encephalopathy, responsive to pyridoxal-5′-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype this condition and detected new genetic variants on gene, whose pathogenetic role clinical expression remain be established. One these mutations, Arg116Gln, particular interest because its later onset symptoms (beyond first months life) peculiar epileptic manifestations in patients. This protein variant was expressed as recombinant E...
<h3>Objective</h3> Aiming to detect associations between neuroradiologic and EEG evaluations long-term clinical outcome in order possible prognostic factors, a detailed neuroimaging characterization of 67 cases Aicardi syndrome (AIC), collected through multicenter collaboration, was performed. <h3>Methods</h3> Only patients who satisfied Sutton diagnostic criteria were included. Clinical assessed using gross motor function, manual ability, eating drinking ability classification systems....
Mitochondrial diseases (MDs) are a large group of genetically determined multisystem disorders, characterized by extreme phenotypic heterogeneity, attributable in part to the dual genomic control (nuclear and mitochondrial DNA) proteome. Advances next-generation sequencing technologies over past two decades have presented clinicians with challenge: select candidate disease-causing variants among huge number data provided. Unfortunately, clinical tools available support genetic...
European Commission under ‘Marie Sklodowska-Curie Actions’, Individual Fellowship – Reintegration Panel (Mitobiopath-705560), MRC core funding (MC_U105697135), Fundacao para a Ciencia e Tecnologia, Portugal (PD/BD/105750/2014), Fondazione Telethon (Italy) (grant GGP15041), Union Seventh Framework Programme FP7 (602531) the project ‘DESIRE’, NRJ-Institut de France grant and ERC advanced FP7-322424 (MZ) National Institutes of Health (VKM, NIH R01 GM0077465 R35GM122455). Funding to pay Open...