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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 (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> | |||
[https://onlinelibrary.wiley.com/doi/full/10.1111/j.1528-1167.2011.02995.x Borderline Dravet syndrome: A useful diagnostic category?]</ref> | |||
After Guerrini & Oguni SMEIB is not more recommended nomenclature | |||
==Links== | ==Links== | ||
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[[Epidiolex|CBD]] | [[Epidiolex|CBD]] | ||
[[ | [[Charlotte Dravet|Dravet, Charlotte]] & Hirokazu Oguni [https://linkinghub.elsevier.com/retrieve/pii/B978-0-444-52891-9.00065-8 DRAVET syndrome (severe myoclonic epilepsy in infancy)] | ||
[ | Dravet, Charlotte | ||
[https://onlinelibrary.wiley.com/doi/full/10.1111/dmcn.13778 Acute encephalopathy after febrile status epilepticus: an underdiagnosed, misunderstood complication of Dravet syndrome] | |||
Rev Clin Med fam 7(2): 134-136 | [https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.13727 The clinical outcome and neuroimaging of acute encephalopathy after status epilepticus in Dravet syndrome. Dev Med Child Neurol 2018; 60: 566–73] | ||
[http://scielo.isciii.es/pdf/albacete/v7n2/paciente2.pdf síndrome de Dravet] Rev Clin Med fam 7(2): 134-136 | |||
Guerrini, R Oguni H | |||
[https://onlinelibrary.wiley.com/doi/full/10.1111/j.1528-1167.2011.02995.x Borderline Dravet syndrome: A useful diagnostic category?] Epilepsia | |||
[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355815/ Small changes in synaptic gain lead to seizure-like activity in neuronal network at criticality] | |||
[https://pdfs.semanticscholar.org/201a/4f0bdd83598c3fa31f981d8114280680d4bc.pdf Proposal for Revised Clinical and Electroencephalographic Classification of Epileptic Seizures] | |||
[https://linkinghub.elsevier.com/retrieve/pii/S2211-1247(19)30055-5 Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome.] | |||
{{disease|G40.3|Dravet's syndrome}} | {{disease|G40.3|Dravet's syndrome}} | ||
{{refs}} | |||
[[Category:epilepsy]] | [[Category:epilepsy]] | ||
Revision as of 00:17, 27 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] After Guerrini & Oguni SMEIB is not more recommended nomenclature
Links
Dravet, Charlotte & Hirokazu Oguni DRAVET syndrome (severe myoclonic epilepsy in infancy)
Dravet, Charlotte Acute encephalopathy after febrile status epilepticus: an underdiagnosed, misunderstood complication of Dravet syndrome
síndrome de Dravet Rev Clin Med fam 7(2): 134-136
Guerrini, R Oguni H Borderline Dravet syndrome: A useful diagnostic category? Epilepsia
Small changes in synaptic gain lead to seizure-like activity in neuronal network at criticality
Proposal for Revised Clinical and Electroencephalographic Classification of Epileptic Seizures
Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome.