People with #Epilepsy experience more than seizures. UCSF researchers discovered how momentary “brain blips” — that happen thousands of times a day and disrupt memory, attention, and language — might be prevented. https://ow.ly/fvqt50YZ7BH
They are colleagues.
PPI (Patient Public Involvement) improves research and achieves better outcomes for people affected by epilepsy. Reetta said that she wouldn't understand the disease as well as she does without them!
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Also:
〰️ Myoclonic score relates to disease duration and there's a huge variability in symptom severity.
Remaining knowledge gaps - natural history and biomarkers, genotype-phenotype correlation, and more.
#epilepsy #UnverrichtLundborgdisease #EPM1 #genetics
UCSF
Torie Robinson
Torie Robinson
@rkalviainen.bsky.social
Also:
〰️ Cognitive impairment
〰️ Sleep pattern disruption - seizure trigger
White matter degeneration
〰️ Unified Myoclonus Rating Scale (UMRS)
〰️ Home monitoring: EMG for myoclonus not reported by patients
〰️ Gait restriction or ataxia
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It's Reetta Kälviäinen 🇫🇮: "Beyond the Myoclonus: Recognizing the Clinical Face of PMEs (Progressive Myoclonic Epilepsy) EPM1 epilepsy"
Reetta shared how the best epilepsy research is done with patients and families. And not just with the usual "awareness" activities it's research collaboration. 1/
Also spoken of were morbidities:
〰️ Psychiatric, inc. mood disorders
〰️ Metabolic and endocrine, inc. obesity, hypothyroidism.
〰️ Bone fractures.
〰️ Impacts of ASMs.
〰️ Prognosis:
dependency, early mortality, aspiration pneumonia
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