Please use this identifier to cite or link to this item: 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: http://ahro.austin.org.au/austinjspui/handle/1/11453
DOI: 10.1016/j.eplepsyres.2012.02.007
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

Show full item record

Page view(s)

6
checked on Dec 2, 2022

Google ScholarTM

Check


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.