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Childhood-onset epilepsy syndrome

MedGen UID:
1843031
•Concept ID:
C5681526
•
Disease or Syndrome
Synonyms: childhood epilepsy syndrome; childhood-onset epilepsy syndrome; epilepsy syndrome of childhood; paediatric epilepsy syndrome; pediatric epilepsy syndrome
 
Monarch Initiative: MONDO:0020072
Orphanet: ORPHA98259

Definition

A epilepsy syndrome that occurs during childhood. [from MONDO]

Professional guidelines

PubMed

Stiripentol for the treatment of seizures in Dravet syndrome.
Eschbach K, Knupp KG
Expert Rev Clin Pharmacol 2019 May;12(5):379-388. Epub 2019 Apr 24 doi: 10.1080/17512433.2019.1605904. PMID: 31017478

Recent clinical studies

Diagnosis

Lennox-Gastaut syndrome of unknown cause: phenotypic characteristics of patients in the Epilepsy Phenome/Genome Project.
Widdess-Walsh P, Dlugos D, Fahlstrom R, Joshi S, Shellhaas R, Boro A, Sullivan J, Geller E; EPGP Investigators
Epilepsia 2013 Nov;54(11):1898-904. Epub 2013 Oct 7 doi: 10.1111/epi.12395. PMID: 24116958

Therapy

PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review.
Samanta D
Pediatr Neurol 2020 Apr;105:3-9. Epub 2019 Nov 30 doi: 10.1016/j.pediatrneurol.2019.10.009. PMID: 32057594
Stiripentol for the treatment of seizures in Dravet syndrome.
Eschbach K, Knupp KG
Expert Rev Clin Pharmacol 2019 May;12(5):379-388. Epub 2019 Apr 24 doi: 10.1080/17512433.2019.1605904. PMID: 31017478
Rufinamide: a new anti-epileptic medication.
Hakimian S, Cheng-Hakimian A, Anderson GD, Miller JW
Expert Opin Pharmacother 2007 Aug;8(12):1931-40. doi: 10.1517/14656566.8.12.1931. PMID: 17696794
Rufinamide: Pharmacology, clinical trials, and role in clinical practice.
Cheng-Hakimian A, Anderson GD, Miller JW
Int J Clin Pract 2006 Nov;60(11):1497-501. doi: 10.1111/j.1742-1241.2006.01173.x. PMID: 17073844

Prognosis

Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis.
Herva R, Tyynelä J, Hirvasniemi A, Syrjäkallio-Ylitalo M, Haltia M
Brain Pathol 2000 Apr;10(2):215-22. doi: 10.1111/j.1750-3639.2000.tb00255.x. PMID: 10764041Free PMC Article

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    • ClinVar
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