Publications by authors named "B Dalla-Bernardina"
Article Synopsis
- A 7-year-old girl with a history of headaches experienced unusual neurological symptoms after episodes of hyperventilation, including aphasia and weakness on one side of her body.
- Despite her family history of migraines and seizures, her neurologic exam remained normal, but EEG tests showed abnormal brain wave patterns linked to her symptoms.
- The case suggests an important link between hyperventilation and rare cerebrovascular disorders, emphasizing the need for thorough EEG analysis in diagnosing such conditions.
Variants of KCNQ2 are associated with a wide spectrum of disorders, ranging from Self-limiting Neonatal Epilepsy (SelNE) to Early Onset Developmental and Epileptic Encephalopathy (KCNQ2-DEE). Comorbidities associated with this end of the spectrum have been seldomly described and their impact on the life of patients and their families is yet to be investigated. Collaborating with caregivers from different European family associations, we have developed a questionnaire aimed at investigating the onset and frequency of epileptic seizures, anti-seizure medications (ASM), hospitalizations, stages of development, and comorbidities.
View Article and Find Full Text PDFObjectives: We describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools and framework of the integrative platform, the main characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality.
Methods: Standardized data of enrolled pediatric and adult patients were collected in 24 Italian expert centers and regularly updated at least on a yearly basis.
Purpose: Heterozygous variants in PRRT2 are mostly associated with benign phenotypes, being the major genetic cause of benign familial infantile seizures (BFIS), as well as in paroxysmal disorders. We report two children from unrelated families with BFIS that evolved to encephalopathy related to status epilepticus during sleep (ESES).
Methods And Results: Two probands presented with focal motor seizures at 3 months of age, with a limited course.