Francesca Madia
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View article: Biallelic <i>COL4A2</i> Variants Associated With Brain Small Vessel Disease and Brain Malformations
Biallelic <i>COL4A2</i> Variants Associated With Brain Small Vessel Disease and Brain Malformations Open
Deleterious variants in COL4A2 , encoding type IV collagen's alpha‐2 chain, cause heterogeneous cerebrovascular and developmental brain malformations. While many dominant variants are known, biallelic changes are rarely reported. We report…
View article: Functional Characterization of a Novel Intronic Variant in <scp><i>PIEZO2</i></scp> in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (<scp>DAIPT</scp>)
Functional Characterization of a Novel Intronic Variant in <span><i>PIEZO2</i></span> in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (<span>DAIPT</span>) Open
Background Distal arthrogryposis with impaired proprioception and touch (DAIPT) is a rare autosomal recessive neurological disease characterized by progressive alteration of mechanosensation. DAIPT is caused by loss of function variants in…
View article: A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: phenotypic and genotypic expansion
A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: phenotypic and genotypic expansion Open
View article: Novel causative variants in Legius syndrome: <i>SPRED1</i> Genotype spectrum expansion
Novel causative variants in Legius syndrome: <i>SPRED1</i> Genotype spectrum expansion Open
Legius syndrome, commonly referred to as SPRED1‐related neurofibromatosis type 1‐like syndrome, is a rare autosomal dominant disorder characterized by café‐au‐lait macules, freckling, lipomas, macrocephaly, and heterogeneous neurodevelopme…
View article: Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy Open
Our study broadens the geographic scope of CHD2-related phenotypes, providing valuable insights into the prevalence and clinical characteristics of this genetic disorder in previously underrepresented populations.
View article: Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity Open
Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense variants, three maternally inherited prote…
View article: Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia Open
Rotatin, encoded by the RTTN gene, is a centrosomal protein with multiple, emerging functions, including left-right specification, ciliogenesis, and neuronal migration. Recessive variants in RTTN are associated with a neurodevelopmental di…
View article: Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder Open
View article: Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity Open
Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder with a broad spectrum of associated signs and symptoms, including skeletal anomalies. The association of NF1 with anterior chest wall deformities has been recently reporte…
View article: Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213 Open
Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by mutations in NF1 gene, coding for neurofibromin 1. NF1 can be associated with Moyamoya disease (MMD), and this association, typical of paediatric patients, is referred t…
View article: Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting
Copy Number Variations in Children with Tourette Syndrome: Systematic Investigation in a Clinical Setting Open
Tourette syndrome (TS) is a neurodevelopmental disturbance with heterogeneous and not completely known etiology. Clinical and molecular appraisal of affected patients is mandatory for outcome amelioration. The current study aimed to unders…
View article: Impressive efficacy of the ketogenic diet in a KCNQ2 encephalopathy infant: a case report and exhaustive literature review
Impressive efficacy of the ketogenic diet in a KCNQ2 encephalopathy infant: a case report and exhaustive literature review Open
To define an overt genotype-phenotype correlation for KCNQ2 pathogenic variants is a challenge; we propose the KD as a valuable treatment for refractory seizures and impaired neurodevelopment in infants harboring "de novo" mutations in the…
View article: Biallelic <i>ZBTB11</i> variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome
Biallelic <i>ZBTB11</i> variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome Open
View article: Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE
Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE Open
The disease course in STXBP1-DEE presents with 2 main trajectories, with either early seizure remission or drug-resistant epilepsy, and a range of neurodevelopmental outcomes from mild to profound intellectual disability. Age at sei…
View article: De novo truncating <i>NOVA2</i> variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
De novo truncating <i>NOVA2</i> variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes Open
Alternative splicing (AS) is crucial for cell-type-specific gene transcription and plays a critical role in neuronal differentiation and synaptic plasticity. De novo frameshift variants in NOVA2, encoding a neuron-specific key splicing fac…
View article: A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome Open
Background WOREE syndrome is a rare neurodevelopmental disorder featuring drug-resistant epilepsy and global developmental delay. The disease, caused by biallelic pathogenic variants in the WWOX gene, usually leads to severe disability or …
View article: Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review Open
View article: Diagnostic Approach to Macrocephaly in Children
Diagnostic Approach to Macrocephaly in Children Open
Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally large head with an occipitofrontal circumference (OFC) >2 standard deviations (SD) above the mean for a given age and sex. Taking into account tha…
View article: Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants Open
View article: Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study Open
Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in NF1 and characterized by a heterogeneous phenotypic presentation. Relevant genotype–phenotype correlations have recently emerged, but only fe…
View article: SARS-CoV-2 was already circulating in Italy, in early December 2019.
SARS-CoV-2 was already circulating in Italy, in early December 2019. Open
Our results suggest an early circulation of SARS-CoV-2 in Italy, before the first COVID-19 cases were described in China. Rapid tests have multiple benefits; however, a confirmation assay is required to avoid false positive results.
View article: Potential Role of miRNAs in the Acquisition of Chemoresistance in Neuroblastoma
Potential Role of miRNAs in the Acquisition of Chemoresistance in Neuroblastoma Open
Neuroblastoma (NB) accounts for about 8–10% of pediatric cancers, and the main causes of death are the presence of metastases and the acquisition of chemoresistance. Metastatic NB is characterized by MYCN amplification that correlates with…
View article: Genotype-phenotype correlations in patients with de novo <i>KCNQ2</i> pathogenic variants
Genotype-phenotype correlations in patients with de novo <i>KCNQ2</i> pathogenic variants Open
Early identification of de novo variants in patients with epilepsy raises prognostic issues toward optimal management. We analyzed the clinical and genetic information from a cohort of patients with de novo pathogenic variants to dissect g…
View article: Isolated compression of the ulnar motor branch due to carpal joint ganglia: clinical series, surgical technique and postoperative outcomes
Isolated compression of the ulnar motor branch due to carpal joint ganglia: clinical series, surgical technique and postoperative outcomes Open
The entrapment of the ulnar nerve in Guyon’s canal (GC) is a well-known wrist canalicular syndrome which is usually followed by a gradual combination of both sensitive and motor symptomatology. However, GC nerve compression could also caus…
View article: Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations Open
View article: Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center Experience
Pathological Findings in Chronic Inflammatory Demyelinating Polyradiculoneuropathy: A Single-Center Experience Open
Objective: Segmental demyelination is the pathological hallmark of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), but other elementary lesions are frequently observed, configuring a series of different pathological pictu…
View article: Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations
Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations Open
View article: Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study
Pediatric Diffuse Midline Gliomas H3 K27M-Mutant and Non-Histone Mutant Midline High-Grade Gliomas in Neurofibromatosis Type 1 in Comparison With Non-Syndromic Children: A Single-Center Pilot Study Open
Background: Pediatric neurofibromatosis type 1 (NF1) patients rarely develop aggressive central nervous system tumors. Among high-grade gliomas (HGGs), histone mutant diffuse midline gliomas (DMGs H3 K27M-mutant) have exceptionally been re…
View article: A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome
A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome Open
View article: Precision medicine in early-onset epilepsy: the KCNQ2 paradigm
Precision medicine in early-onset epilepsy: the KCNQ2 paradigm Open
The identification of the genetic causes and the underlying pathogenic mechanisms in early-onset epilepsies has proved to be essential in improving the efficacy of therapeutic decisions and the overall patient management, especially in the…