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Progressive myoclonic epilepsy with neuroserpin inclusion bodies

MedGen UID:
1842353
Concept ID:
C5680144
Disease or Syndrome
Synonym: Early onset familial encephalopathy with neuroserpin inclusion bodies
 
Orphanet: ORPHA530298

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProgressive myoclonic epilepsy with neuroserpin inclusion bodies

Recent clinical studies

Diagnosis

Handa H, Sugiyama A, Kaname T, Shigemoto Y, Sato N, Hirano S, Nakagawa Y, Uzawa A, Aotsuka A, Kuwabara S
BMC Neurol 2024 Jan 2;24(1):9. doi: 10.1186/s12883-023-03511-0. PMID: 38166833Free PMC Article

Clinical prediction guides

Handa H, Sugiyama A, Kaname T, Shigemoto Y, Sato N, Hirano S, Nakagawa Y, Uzawa A, Aotsuka A, Kuwabara S
BMC Neurol 2024 Jan 2;24(1):9. doi: 10.1186/s12883-023-03511-0. PMID: 38166833Free PMC Article

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