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Benign childhood occipital epilepsy, Panayiotopoulos type

MedGen UID:
581520
Concept ID:
C0393676
Disease or Syndrome
Synonym: Panayiotopoulos Syndrome
SNOMED CT: Panayiotopoulos syndrome (230387008); Benign occipital epilepsy of childhood - early onset variant (230387008); Benign childhood occipital epilepsy Panayiotopoulos type (230387008); Early-onset benign childhood occipital epilepsy (230387008)
 
Monarch Initiative: MONDO:0020307
Orphanet: ORPHA98815

Definition

A rare genetic neurological disorder characterised by late infancy to early-adolescence onset of prolonged, nocturnal seizures which begin with autonomic features (e.g. vomiting, pallor, sweating) and associate tonic eye deviation, impairment of consciousness and may evolve to a hemi-clonic or generalised convulsion. Autonomic status epilepticus may be the only clinical event in some cases. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBenign childhood occipital epilepsy, Panayiotopoulos type

Professional guidelines

PubMed

Schmitz B, Lattanzi S, Vonck K, Kälviäinen R, Nashef L, Ben-Menachem E
Epilepsia Open 2023 Dec;8(4):1241-1255. Epub 2023 Oct 3 doi: 10.1002/epi4.12830. PMID: 37743544Free PMC Article
Löscher W, Potschka H, Sisodiya SM, Vezzani A
Pharmacol Rev 2020 Jul;72(3):606-638. doi: 10.1124/pr.120.019539. PMID: 32540959Free PMC Article
Kural MA, Duez L, Sejer Hansen V, Larsson PG, Rampp S, Schulz R, Tankisi H, Wennberg R, Bibby BM, Scherg M, Beniczky S
Neurology 2020 May 19;94(20):e2139-e2147. Epub 2020 Apr 22 doi: 10.1212/WNL.0000000000009439. PMID: 32321764Free PMC Article

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