Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
Brain, Volume 136, No. 10, Year 2013
Notification
URL copied to clipboard!
Description
Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treatment. The cause of mesial temporal lobe epilepsy with hippocampal sclerosis is unknown, but there is an association with childhood febrile seizures. Several rarer epilepsies featuring febrile seizures are caused by mutations in SCN1A, which encodes a brain-expressed sodium channel subunit targeted by many anti-epileptic drugs. We undertook a genome-wide association study in 1018 people with mesial temporal lobe epilepsy with hippocampal sclerosis and 7552 control subjects, with validation in an independent sample set comprising 959 people with mesial temporal lobe epilepsy with hippocampal sclerosis and 3591 control subjects. To dissect out variants related to a history of febrile seizures, we tested cases with mesial temporal lobe epilepsy with hippocampal sclerosis with (overall n = 757) and without (overall n = 803) a history of febrile seizures. Meta-analysis revealed a genome-wide significant association for mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures at the sodium channel gene cluster on chromosome 2q24.3 [rs7587026, within an intron of the SCN1A gene, P = 3.36 × 10
-9
, odds ratio (A) = 1.42, 95% confidence interval: 1.26-1.59]. In a cohort of 172 individuals with febrile seizures, who did not develop epilepsy during prospective follow-up to age 13 years, and 6456 controls, no association was found for rs7587026 and febrile seizures. These findings suggest SCN1A involvement in a common epilepsy syndrome, give new direction to biological understanding of mesial temporal lobe epilepsy with hippocampal sclerosis with febrile seizures, and open avenues for investigation of prognostic factors and possible prevention of epilepsy in some children with febrile seizures. © 2013 The Author (2013). Published by Oxford University Press on behalf of the Guarantors of Brain.
Authors & Co-Authors
Kasperavičiũte, Dalia
Unknown Affiliation
Catarino, Claudia B.
Unknown Affiliation
Matarín, Mar M.
Unknown Affiliation
Leu, Costin
Unknown Affiliation
Novy, Jan
Unknown Affiliation
Tostevin, Anna
Unknown Affiliation
Leal, Bárbara
Unknown Affiliation
Hessel, Ellen V.S.
Unknown Affiliation
Hallmann, Kerstin
Unknown Affiliation
Hildebrand, Michael S.
Unknown Affiliation
Dahl, Hans Henrik M.
Unknown Affiliation
Ryten, Mina
Unknown Affiliation
Trabzuni, Daniah
Unknown Affiliation
Ramasamy, Adaikalavan
Unknown Affiliation
Alhusaini, Saud
Unknown Affiliation
Doherty, Colin P.
Unknown Affiliation
Dorn, Thomas H.
Unknown Affiliation
Hansen, Jörg
Unknown Affiliation
Krämer, Günter
Unknown Affiliation
Steinhoff, Bernhard Jochen
Unknown Affiliation
Zumsteg, Dominik
Unknown Affiliation
Duncan, Susan
Unknown Affiliation
Kälviäinen, Reetta K. K.
Unknown Affiliation
Eriksson, Kai J.
Unknown Affiliation
Kantanen, Anne Mari
Unknown Affiliation
Pandolfo, Massimo
Unknown Affiliation
Gruber-Sedlmayr, Ursula
Unknown Affiliation
Schlachter, Kurt
Unknown Affiliation
Reinthaler, Eva Maria
Unknown Affiliation
Stögmann, Elisabeth
Unknown Affiliation
Zimprich, Fritz
Unknown Affiliation
Théâtre, Emilie
Unknown Affiliation
Smith, Colin Nurse Simon
Unknown Affiliation
O'Brien, Terence J.
Unknown Affiliation
Meng Tan, K.
Unknown Affiliation
Petrovski, Slavé D.Sign©
Unknown Affiliation
Robbiano, Angela
Unknown Affiliation
Paravidino, Roberta
Unknown Affiliation
Zara, Federico
Unknown Affiliation
Striano, Pasquale
Unknown Affiliation
Sperling, Michael R.
Unknown Affiliation
Buono, Russell J.
Unknown Affiliation
Håkonarson, Håkon H.
Unknown Affiliation
Chaves, João
Unknown Affiliation
Costa, Paulo Pinho
Unknown Affiliation
Silva, Berta M.
Unknown Affiliation
Martins-Da-Silva, A.
Unknown Affiliation
De Graan, Pierre N.E.
Unknown Affiliation
Koeleman, Bobby P.C.
Unknown Affiliation
Becker, Albert Johann
Unknown Affiliation
Schoch, Susanne
Unknown Affiliation
Von Lehe, Marec
Unknown Affiliation
Reif, Philipp Sebastian
Unknown Affiliation
Rosenow, Felix
Unknown Affiliation
Becker, Felicitas
Unknown Affiliation
Weber, Yvonne
Unknown Affiliation
Lerche, Holger
Unknown Affiliation
Roessler, Karl
Unknown Affiliation
Buchfelder, Michael
Unknown Affiliation
Hamer, Hajo
Unknown Affiliation
Kobow, Katja
Unknown Affiliation
Coras, Roland
Unknown Affiliation
Blümcke, Ingmar
Unknown Affiliation
Scheffer, Ingrid E.
Unknown Affiliation
Berkovic, Samuel F.
Unknown Affiliation
Weale, Michael E.
Unknown Affiliation
Delanty, Norman
Unknown Affiliation
Depondt, Chantal
Unknown Affiliation
Cavalleri, Gianpiero L.
Unknown Affiliation
Kunz, Wolfram S.
Unknown Affiliation
Sisodiya, Sanjay M.
Unknown Affiliation
Statistics
Citations: 179
Authors: 71
Affiliations: 39
Identifiers
Doi:
10.1093/brain/awt233
e-ISSN:
14602156
Research Areas
Genetics And Genomics
Maternal And Child Health
Study Design
Cohort Study
Case-Control Study
Study Approach
Systematic review