Doose syndrome: clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Doose syndrome: clinical features. SLC6A1 gene mutations, Sturge–Weber syndrome, Oxcarbazepine: case reports. Fully referenced neurology checklist.
Main genetic causes
- SLC6A1 gene mutations
- Sturge–Weber syndrome
- Oxcarbazepine: case reports
- Idiopathic
Other genetic variant causes
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Demographic features
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Diagnostic criteria
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Myoclonic seizures
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Atonic seizures
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Other seizure types
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Differential diagnosis
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Synonym
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References
- Kelley SA, Kossoff EH. Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. Dev Med Child Neurol 2010; 52:988-993.
- Kural Z, Ozer AF. Epileptic encephalopathies in adults and childhood. Epilepsy Res Treat 2012; 2012:205131.
- Oguni H, Fukuyama Y, Tanaka T, et al. Myoclonic-astatic epilepsy of early childhood-clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome. Brain Dev 2001; 23:757-764.
- Johannesen KM, Gardella E, Linnankivi T, et al. Defining the phenotypic spectrum of SLC6A1 mutations. Epilepsia 2018; 59:389-402.
- Carvill GL, McMahon JM, Schneider A, et al. Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures. Am J Hum Genet 2015; 96:808-815.
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