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Dravet's syndrome: Difference between revisions
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'''Dravet syndrome''' corresponds a phenotype severe myoclonic epilepsy of infancy (SMEI), a form of intractable epilepsy of childhood.<ref>[http://www.neurowikia.es/content/s%C3%ADndromes-epil%C3%A9pticos-de-la-primera-infancia NeuroWikia:Síndromes epilépticos de la primera infancia]</ref> | '''Dravet syndrome''' corresponds a phenotype severe myoclonic epilepsy of infancy (SMEI), a form of intractable epilepsy of childhood.<ref>[http://www.neurowikia.es/content/s%C3%ADndromes-epil%C3%A9pticos-de-la-primera-infancia NeuroWikia:Síndromes epilépticos de la primera infancia]</ref> | ||
<ref>Singh et al. 2001[http://onlinelibrary.wiley.com/doi/10.1046/j.1528-1157.2001.042007837.x/epdf Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?] Epilepsia 42:837-844</ref> | <ref>Singh et al. 2001[http://onlinelibrary.wiley.com/doi/10.1046/j.1528-1157.2001.042007837.x/epdf Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?] Epilepsia 42:837-844</ref> | ||
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> | |||
==Links== | ==Links== | ||
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{{disease|G40.3|Dravet's syndrome}} | {{disease|G40.3|Dravet's syndrome}} | ||
<references/> | <references/> | ||
[[Category:epilepsy]] | [[Category:epilepsy]] | ||
Revision as of 20:46, 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]
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)
Rev Clin Med fam 7(2): 134-136
Disease classification WHO
G40.3 Dravet's syndrome