Elisa Musto

Highly purified cannabidiol ( CBD ) in CDKL5 deficiency disorder ( CDD ): Open‐label prospective study

Marco Perulli, Alessia de Gioia, Federica Ruggiero, Federica Ascione et autres

OBJECTIVE: CDKL5 deficiency disorder (CDD) is an early-onset developmental and epileptic encephalopathy characterized by frequent drug-resistant seizures, cerebral visual impairment, motor dysfunction, and sleep and gastrointestinal disturbances. Preliminary evidence suggests that highly purified cannabidiol (CBD) may reduce seizure frequency, but data on …

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Construct Validity and Internal Consistency of the Italian Version of the PedsQLTM 4.0 Generic Core Scale and PedsQLTM 3.0 Cerebral Palsy Module

Ilaria Pedrinelli, S.F. Biagi, Domenico Marco Romeo, Elisa Musto et autres

Background: Health-related quality of life (HRQoL) has emerged as a meaningful outcome measure in clinical trials and healthcare interventions in children with cerebral palsy (CwCP). We assessed the construct validity and internal consistency of the Italian version of the Paediatric QoL inventory …

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Status epilepticus in BRAF‐related cardio‐facio‐cutaneous syndrome: Focus on neuroimaging clues to physiopathology

Elisa Musto, Maria Luigia Gambardella, Marco Perulli, Michela Quintiliani et autres

OBJECTIVE: Cardio-facio-cutaneous syndrome (CFC) is a genetic disorder due to variants affecting genes coding key proteins of the Ras/MAPK signaling pathway. Among the different features of CFC, neurological involvement, including cerebral malformations and epilepsy, represents a common and clinically relevant aspect. Status …

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GABRA1 ‐Related Disorders: From Genetic to Functional Pathways

Elisa Musto, Vivian W. Y. Liao, Katrine M. Johannesen, Christina Dühring Fenger et autres

OBJECTIVE: Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype severity and best treatment options remains inadequate. We therefore aimed to analyze …

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Visual Function in Children with GNAO1-Related Encephalopathy

Maria Luigia Gambardella, Elisa Pede, Lorenzo Orazi, Simona Leone et autres

BACKGROUND: GNAO1-related encephalopathies include a broad spectrum of developmental disorders caused by de novo heterozygous mutations in the GNAO1 gene, encoding the G (o) subunit α of G-proteins. These conditions are characterized by epilepsy, movement disorders and developmental impairment, in combination or …

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Pyridoxine supplementation in PACS2-related encephalopathy: A case report of possible precision therapy

Marco Perulli, Maria Picilli, Ilaria Contaldo, Simona Amenta et autres

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Cortical Visual Impairment in CDKL5 Deficiency Disorder

Michela Quintiliani, Daniela Ricci, Maria Petrianni, Simona Leone et autres

BACKGROUND: CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene cyclin-dependent kinase-like 5. Cerebral visual impairment (CVI) is frequent in patients with CDD. In addition to being recognized as a specific feature of the pathology, it …

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Fighting autoinflammation in FIRES: The role of interleukins and early immunomodulation

Marco Perulli, Gianpaolo Cicala, Ida Turrini, Elisa Musto et autres

Febrile infection-related epilepsy syndrome (FIRES) is a challenging condition with unfavorable outcome in most cases. Preliminary evidence suggests that some interleukins, in particular IL-1 Receptor Antagonist (IL-1RA), could be elevated due to a functional deficiency of anti-inflammatory pathways. Therefore, treatment strategies acting …

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Heart rate variability alterations in Dravet Syndrome: The role of status epilepticus and a possible association with mortality risk

Marco Perulli, Andrea Battista, Serena Sivo, Ida Turrini et autres

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Co-Occurrence of Fragile X Syndrome with a Second Genetic Condition: Three Independent Cases of Double Diagnosis

Elisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, Roberta Pietrobono et autres

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism caused by the instability of a CGG trinucleotide repeat in exon 1 of the FMR1 gene. The co-occurrence of FXS with other genetic disorders has only been …

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Recent advances in treatment of epilepsy-related sodium channelopathies

Elisa Musto, Elena Gardella, Rikke Steensbjerre Møller

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Epileptic Encephalopathy with Recurrent Focal Status Epilepticus and Epilepsia Partialis Continua in Patient with De Novo DNM1L Mutation: Electroclinical Features

Elisa Musto, Michele Gambardella, Ilaria Contaldo, Michela Quintiliani et autres

Child with a history of failure to thrive, sucking, and swallowing disorder, speech delay. From 3 years onward, he presented relapsing episodes of refractory motor focal status epilepticus, involving the left side or the right side of the body, followed by transient …

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