Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations

Developmental Medicine and Child Neurology

Volumn 54, Issue 12, 2012, Pages 1144-1148

  Appenzeller, Silke ^a   Helbig, Ingo ^a   Stephani, Ulrich ^a   Häusler, Martin ^b   Kluger, Gerhard ^c   Bungeroth, May ^a   Müller, Stefanie ^a   Kuhlenbäumer, Gregor ^a   Van Baalen, Andreas ^a  

^a UNIVERSITY OF KIEL   (Germany)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^c Epilepsy Center for Children and Adolescents   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; DNA DIRECTED DNA POLYMERASE GAMMA; PROTOCADHERIN 19; SODIUM CHANNEL NAV1.1; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA SPLICING; EPILEPSY; EPILEPTIC STATE; FEBRILE INFECTION RELATED EPILEPSY SYNDROME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; MALE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; CADHERINS; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; DNA-DIRECTED DNA POLYMERASE; EPILEPSY; FEMALE; HUMANS; INFECTION; MALE; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; PREGNANCY; SEIZURES, FEBRILE; SYNDROME;

EID: 84869204627     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2012.04435.x     Document Type: Article

References (8)

1. van Baalen A, Häusler M, Boor R, et al.Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood. Epilepsia 2010; 51: 1323-8.
2. Kramer U, Chi CS, Lin KL, et al.Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. Epilepsia 2011; 52: 1956-65.
3. Rojo CD, Harvey SA, Iona X, et al.Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations. Epilepsy Res 2012; 100: 194-8.
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5. Marini C, Mei D, Parmeggiani L, et al.Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology 2010; 75: 646-53.
6. Specchio N, Fusco L, Vigevano F. Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation. Epilepsia 2011; 52: e172-5.
7. Helbig I, Mefford HC, Sharp AJ, et al.15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 2009; 41: 160-2.
8. Mefford HC, Yendle SC, Hsu C, et al.Rare copy number variants are an important cause of epileptic encephalopathies. Ann Neurol 2011; 70: 974-85.