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Polymorphic focal epileptiform discharges

MedGen UID:: 869064
•Concept ID:: C4023482
•: Finding

HPO:	HP:0011192

Definition

Focal epileptiform discharges of different shapes and frequencies. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPolymorphic focal epileptiform discharges

Abnormal nervous system electrophysiology
- Abnormality of central nervous system electrophysiology
  - EEG abnormality
    - Interictal EEG abnormality
      - Interictal epileptiform activity
        EEG with focal epileptiform discharges
        Polymorphic focal epileptiform discharges

Recent clinical studies

Diagnosis

Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy.

Fearn N, Macdonald-Laurs E, Moylan L, Howell KB
Epileptic Disord 2023 Aug;25(4):510-518. Epub 2023 May 17 doi: 10.1002/epd2.20072. PMID: 37170076

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.

Thiffault I, Atherton A, Heese BA, T Abdelmoity A, Pawar K, Farrow E, Zellmer L, Miller N, Soden S, Saunders C
Cold Spring Harb Mol Case Stud 2020 Jun;6(3) Epub 2020 Jun 12 doi: 10.1101/mcs.a003970. PMID: 32358097 Free PMC Article

Supplemental Content

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Clinical resources

ClinicalTrials.gov

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