Dravet syndrome
<p>Abstract</p> <p>"Dravet syndrome" (DS) previously named severe myoclonic epilepsy of infancy (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy.</p> <p>DS is characteriz...
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BMC,
2009-09-01T00:00:00Z.
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| Summary: | <p>Abstract</p> <p>"Dravet syndrome" (DS) previously named severe myoclonic epilepsy of infancy (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy.</p> <p>DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized), which are typically resistant to antiepileptic drugs. A developmental delay from the 2nd to 3rd year of life becomes evident, together with motor disturbances and personality disorders.</p> <p>Beside the classic syndrome, there are milder cases which have been called severe myoclonic epilepsy borderline (SMEB).</p> <p>DS is caused by a mutation in the neuronal sodium channel gene, SCN1A , that is also mutated in generalized epilepsy with FS+ (GEFS+).</p> |
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| Item Description: | 10.1186/1824-7288-35-27 1720-8424 1824-7288 |