NS
NICOLA SPECCHIO
Research areas: Medicine · Neurology · Epilepsy research and treatment · Pharmacological Effects and Toxicity Studies · Genetics and Neurodevelopmental Disorders
0000-0002-8120-0287
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Publications (255)
- RFX3 Pathogenic Variants as a Rare Cause of Infantile Epileptic Spasms Syndrome Save
- Volumetric Absorptive Microsampling (VAMS) for Therapeutic Drug Monitoring of Antiseizure Medications (ASMs) in Pediatric Patients Save
- A registry for Dravet syndrome: The Italian experience Save
- Cannabidiol use in patients with Dravet syndrome and Lennox-Gastaut syndrome: experts’ opinions using a nominal group technique (NGT) approach Save
- Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes Save
- Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome Save
- Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication Save
- Phase-amplitude coupling between low- and high-frequency activities as preoperative biomarker of focal cortical dysplasia subtypes Save
- Treatment with Cenobamate in Adult Patients with Lennox–Gastaut Syndrome: A Case Series Save
- WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk Save
- Can Presurgical Interhemispheric EEG Connectivity Predict Outcome in Hemispheric Surgery? A Brain Machine Learning Approach Save
- Hemispherotomy in Infants with Hemimegalencephaly: Long-Term Seizure and Developmental Outcome in Early Treated Patients Save
- A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy Save
- Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with KCNT1 Genetic Variants Save
- A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease Save
- Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy Save
- An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real-world practice setting: A report from the Fenfluramine European Early Access Program Save
- Current role of surgery for tuberous sclerosis complex-associated epilepsy Save
- Epilepsy Course and Developmental Trajectories in STXBP1 -DEE Save
- Fenfluramine significantly reduces day-to-day seizure burden by increasing number of seizure-free days and time between seizures in patients with Dravet syndrome: A time-to-event analysis Save