Dravet syndrome: differential diagnosis
Evidence-based neurology checklist on dravet syndrome: differential diagnosis: CDH2 epileptic encephalopathy CDH2 associated seizures begin later than in Dravet syndrome Developmental delay may appear before seizures: unlike in Dravet syndrome It is associated with fever sensitive generalised…
CDH2 epileptic encephalopathy
- CDH2 associated seizures begin later than in Dravet syndrome
- Developmental delay may appear before seizures: unlike in Dravet syndrome
- It is associated with fever sensitive generalised seizures: these are treatment resistant
Lennox Gastaut syndrome (LGS)
Other genetic differentials
References
- Suls A, Jaehn JA, Kecskés A, et al. De novo loss-of function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet 2013; 93: 967-975.
- Aljaafari D, Fasano A, Nascimento FA, Lang AE, Andrade DM. Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features. Epilepsia 2017; 58:e44-e48.
- Steel D, Symonds JD, Zuberi SM, Brunklaus A. Dravet syndrome and its mimics: beyond SCN1A. Epilepsia 2017; 58:1807-1816.
- Lim BC, Hwang H, Kim H, et al. Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: migrating partial seizures of infancy or atypical Dravet syndrome? Epilepsy Res 2015; 109:34-39.
- Le SV, Le PHT, Le TKV, Kieu Huynh TT, Hang Do TT. A mutation in GABRB3 associated with Dravet syndrome. Am J Med Genet A 2017; 173:2126-2131.
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