Epileptic encephalopathy: syndromic types
Evidence-based neurology checklist on epileptic encephalopathy: syndromic types: Eponymous epileptic encephalopathies Dravet syndrome: severe myoclonic epilepsy of infancy Doose syndrome: myoclonic astatic epilepsy Harel-Yoon syndrome (HYS) Kohlschütter-Tönz syndrome (KTS): epilepsy, dementia and…
Eponymous epileptic encephalopathies
- Dravet syndrome: severe myoclonic epilepsy of infancy
- Doose syndrome: myoclonic astatic epilepsy
- Harel-Yoon syndrome (HYS)
- Kohlschütter-Tönz syndrome (KTS): epilepsy, dementia and amylogenesis imperfecta
- Landau-Kleffner syndrome (LKS)
- Lennox-Gastaut syndrome (LGS)
- Ohtahara syndrome: early-infantile epileptic encephalopathy
- Pitt-Hopkins syndrome (PTHS): this is caused by TCF4 gene mutations
- Poirier-Bienvenu syndrome: this is caused by CSNK2B gene mutations
- Vici syndrome
- West syndrome: infantile spasms
Other defined epileptic encephalopathies
Amino acid deficiency syndromes
References
- Kural Z, Ozer AF. Epileptic encephalopathies in adults and childhood. Epilepsy Res Treat 2012; 2012:205131.
- McTague A, Howell KB, Cross JH, Kurian MA, Scheffer IE. The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol 2016; 15:304-316.
- Hanes I, McMillan HJ, Ito Y, Kernohan KD, Lazier J, Lines MA, Dyment DA. A splice variant in ATAD3A expands the clinical and genetic spectrum of Harel-Yoon syndrome Neurol Genet 2020; 6:e452.
- Leão VHP, Aragão MM, Pinho RS, Masruha MR. Teaching NeuroImages: When the teeth are the clue to the etiology of an epileptic encephalopathy. Neurology 2021; 96:e157-e158.
- Schossig A, Wolf NI, Kapferer I, Kohlschütter A, Zschocke J. Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome. Eur J Med Genet 2012; 55:319-322.
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