Do mutations in SCN1B cause Dravet syndrome?

2012-11-20

Kim, Young Ok

Dibbens, Leanne M

Marini, Carla

Suls, Arvid

Chemaly, Nicole

Mei, Davide

McMahon, Jacinta M

Iona, Xenia

Berkovic, Samuel F

De Jonghe, Peter

Guerrini, Renzo

Nabbout, Rima

Scheffer, Ingrid E

Journal Article

10.1016/j.eplepsyres.2012.10.009

A homozygous SCN1B mutation was previously identified in a patient with early onset epileptic encephalopathy (EOEE) described as Dravet syndrome (DS) despite a more severe phenotype than DS. We investigated whether SCN1B mutations are a common cause of DS. Patients with DS who did not have a SCN1A sequencing mutation or copy number variation were studied. Genomic DNA was Sanger sequenced for mutations in the 6 exons of SCN1B. In 54 patients with DS recruited from four centres, no SCN1B mutations were identified. SCN1B mutation is not a common cause of DS.

link

Epilepsy Research 2012; 103(1): 97-100

Epilepsy research