Publications by authors named "Francesca M A Papoff"
Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.
Emanuele Bartolini Anna Rita Ferrari Filippo Maria Santorelli Carmen Salluce Guja Astrea Francesca Maria Agostina Papoff
Seizure
October 2024
Article Synopsis
- Patients with AP-4 deficiency have developmental delays and seizures that start early in life, along with other issues like trouble with speech and movement.
- The study looked at how these seizures happen and how patients respond to treatment, finding various types of seizures and some unique brain wave patterns.
- Overall, while epilepsy can develop at different ages, many patients had a good outlook, and they didn’t seem to be resistant to medications.
Hereditary spastic paraplegias (HSPs) are a genetically heterogeneous group of neurodegenerative disorders clinically characterized by progressive lower limb spasticity with pyramidal weakness. Around a dozen potential molecular mechanisms are recognized. Childhood HSP is a significant diagnostic challenge in clinical practice.
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