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Dravet's syndrome: Difference between revisions
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Prompt and precise diagnosis of Dravet is critical, due to the high risk of status epilepticus and sudden unexplained death in epilepsy (SUDEP), and that commonly prescribed antiepileptic sodium channel blockers aggravate Dravet seizures | Prompt and precise diagnosis of Dravet is critical, due to the high risk of status epilepticus and sudden unexplained death in epilepsy (SUDEP), and that commonly prescribed antiepileptic sodium channel blockers aggravate Dravet seizures | ||
<ref>[http://dx.plos.org/10.1371/journal.pone.0211901 In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations]</ref> | <ref>[http://dx.plos.org/10.1371/journal.pone.0211901 In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations]</ref> | ||
The proportion of patients with SMEIB who carry SCN1A mutations is the same as that observed in classical Dravet syndrome and, even within a same family, the same mutation can cause both typical and “borderline” forms | The proportion of patients with SMEIB (i.e. borderline Dravet syndrome) who carry SCN1A mutations is the same as that observed in classical Dravet syndrome and, even within a same family, the same mutation can cause both typical and “borderline” forms | ||
<ref> | <ref> | ||
[https://onlinelibrary.wiley.com/doi/full/10.1111/j.1528-1167.2011.02995.x Borderline Dravet syndrome: A useful diagnostic category?]</ref> | [https://onlinelibrary.wiley.com/doi/full/10.1111/j.1528-1167.2011.02995.x Borderline Dravet syndrome: A useful diagnostic category?]</ref> | ||
Revision as of 20:56, 26 February 2019
Generalized epilepsy with febrile seizures plus Dravet syndrome corresponds a phenotype severe myoclonic epilepsy of infancy (SMEI), a form of intractable epilepsy of childhood.[1] [2] Prompt and precise diagnosis of Dravet is critical, due to the high risk of status epilepticus and sudden unexplained death in epilepsy (SUDEP), and that commonly prescribed antiepileptic sodium channel blockers aggravate Dravet seizures [3] The proportion of patients with SMEIB (i.e. borderline Dravet syndrome) who carry SCN1A mutations is the same as that observed in classical Dravet syndrome and, even within a same family, the same mutation can cause both typical and “borderline” forms [4]
Links
Dravet, Charlotte & Hirokazu Oguni [https://linkinghub.elsevier.com/retrieve/pii/B978-0-444-52891-9.00065-8 DRAVET syndrome (severe myoclonic epilepsy in infancy)
síndrome de Dravet Rev Clin Med fam 7(2): 134-136
Guerrini, R Oguni H Borderline Dravet syndrome: A useful diagnostic category? Epilepsia
- ↑ NeuroWikia:Síndromes epilépticos de la primera infancia
- ↑ Singh et al. 2001Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+? Epilepsia 42:837-844
- ↑ In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations
- ↑ Borderline Dravet syndrome: A useful diagnostic category?