Do mutations in SCN1B cause Dravet syndrome?

Young Ok Kim; Leanne Dibbens; Carla Marini; Arvid Suls; Nicole Chemaly; Davide Mei; Jacinta M. McMahon; Xenia Iona; Samuel F. Berkovic; Peter De Jonghe; Renzo Guerrini; Rima Nabbout; Ingrid E. Scheffer

doi:10.1016/j.eplepsyres.2012.10.009

Do mutations in SCN1B cause Dravet syndrome?

Young Ok Kim, Leanne Dibbens, Carla Marini, Arvid Suls, Nicole Chemaly, Davide Mei, Jacinta M. McMahon, Xenia Iona, Samuel F. Berkovic, Peter De Jonghe, Renzo Guerrini, Rima Nabbout, Ingrid E. Scheffer

Fondazione Stella Maris

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	97-100
Number of pages	4
Journal	Epilepsy Research
Volume	103
Issue number	1
DOIs	https://doi.org/10.1016/j.eplepsyres.2012.10.009
Publication status	Published - Jan 2013

Keywords

Dravet syndrome
Epileptic encephalopathy
SCN1B

ASJC Scopus subject areas

Clinical Neurology
Neurology

Access to Document

10.1016/j.eplepsyres.2012.10.009

Cite this

Do mutations in SCN1B cause Dravet syndrome? / Kim, Young Ok; Dibbens, Leanne; 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.

In: Epilepsy Research, Vol. 103, No. 1, 01.2013, p. 97-100.

Research output: Contribution to journal › Article › peer-review

@article{801d18e1341b4c9e9f5fe1b442965b96,

title = "Do mutations in SCN1B cause Dravet syndrome?",

abstract = "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.",

keywords = "Dravet syndrome, Epileptic encephalopathy, SCN1B",

author = "Kim, {Young Ok} and Leanne Dibbens and Carla Marini and Arvid Suls and Nicole Chemaly and Davide Mei and McMahon, {Jacinta M.} and Xenia Iona and Berkovic, {Samuel F.} and {De Jonghe}, Peter and Renzo Guerrini and Rima Nabbout and Scheffer, {Ingrid E.}",

year = "2013",

month = jan,

doi = "10.1016/j.eplepsyres.2012.10.009",

language = "English",

volume = "103",

pages = "97--100",

journal = "Epilepsy Research",

issn = "0920-1211",