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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| Format: | Article |
| Language: | English |
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BMC
2009-09-01
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| Series: | Italian Journal of Pediatrics |
| Online Access: | http://www.ijponline.net/content/35/1/27 |
| _version_ | 1818556444211937280 |
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| author | Incorpora Gemma |
| author_facet | Incorpora Gemma |
| author_sort | Incorpora Gemma |
| collection | DOAJ |
| description | <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> |
| first_indexed | 2024-12-13T23:47:25Z |
| format | Article |
| id | doaj.art-6184130117d244fb8ac65bef74d1f6e4 |
| institution | Directory Open Access Journal |
| issn | 1720-8424 1824-7288 |
| language | English |
| last_indexed | 2024-12-13T23:47:25Z |
| publishDate | 2009-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-6184130117d244fb8ac65bef74d1f6e42022-12-21T23:26:54ZengBMCItalian Journal of Pediatrics1720-84241824-72882009-09-013512710.1186/1824-7288-35-27Dravet syndromeIncorpora Gemma<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>http://www.ijponline.net/content/35/1/27 |
| spellingShingle | Incorpora Gemma Dravet syndrome Italian Journal of Pediatrics |
| title | Dravet syndrome |
| title_full | Dravet syndrome |
| title_fullStr | Dravet syndrome |
| title_full_unstemmed | Dravet syndrome |
| title_short | Dravet syndrome |
| title_sort | dravet syndrome |
| url | http://www.ijponline.net/content/35/1/27 |
| work_keys_str_mv | AT incorporagemma dravetsyndrome |