Progressive myoclonic epilepsy type 8
Synonyms: EPM8 | PME type 8 | Progressive myoclonic epilepsy due to CERS1 deficiency | Progressive myoclonus epilepsy type 8
A rare genetic neurological disorder characterized by childhood to adolescent-onset of action myoclonus generalized tonic-clonic seizures and slowly progressive moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Progressive myoclonic epilepsy type 8?
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Pediatric Epilepsy Research Consortium
The Pediatric Epilepsy Research Consortium (PERC) is a group of US pediatric epilepsy centers, researchers and professionals in field of epilepsy whose goal is to provide a network and infrastructure to facilitate collegial, collaborative practice-changing research that will provide answers needed to improve the care of children with epilepsy.
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Collaboration of research and care
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
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Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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