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https://ahro.austin.org.au/austinjspui/handle/1/11453| Title: | Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations. | Austin Authors: | Carranza Rojo, Daniel;Harvey, A Simon;Iona, Xenia;Dibbens, Leanne M;Damiano, John Anthony;Arsov, Todor;Gill, Deepak S;Freeman, Jeremy L;Leventer, Richard J;Vincent, Angela;Berkovic, Samuel F ;McMahon, Jacinta M;Scheffer, Ingrid E | Affiliation: | Epilepsy Research Centre, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia | Issue Date: | 3-Mar-2012 | Publication information: | Epilepsy Research 2012; 100(1-2): 194-8 | Abstract: | Two distinctive epileptic encephalopathies, febrile infection-related epilepsy syndrome (FIRES) and Dravet syndrome (DS), present with febrile status epilepticus in a normal child followed by refractory focal seizures and cognitive decline although there are differentiating features. Abnormalities of the sodium channel gene SCN1A are found in 75% of DS patients. We found no SCN1A mutations or copy number variants in 10 patients with FIRES. Other genetic etiologies deserve consideration. | Gov't Doc #: | 22386634 | URI: | https://ahro.austin.org.au/austinjspui/handle/1/11453 | DOI: | 10.1016/j.eplepsyres.2012.02.007 | Journal: | Epilepsy research | URL: | https://pubmed.ncbi.nlm.nih.gov/22386634 | Type: | Journal Article | Subjects: | Adolescent Adult Child, Preschool Diagnosis, Differential Epilepsies, Myoclonic.genetics Humans Mutation.genetics NAV1.1 Voltage-Gated Sodium Channel.genetics Seizures, Febrile.diagnosis.genetics Young Adult |
| Appears in Collections: | Journal articles |
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