Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy

Goeggel Simonetti, Barbara; Rieubland, Claudine; Courage, Carolina; Strozzi, Susi; Tschumi, Sibylle; Gallati, Sabina; Lemke, Johannes R (2012). Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy. Epilepsia, 53(12), pp. 2128-34. Malden, Mass.: Wiley-Blackwell 10.1111/j.1528-1167.2012.03676.x

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Sodium channel gene aberrations are associated with a wide range of seizure disorders, particularly Dravet syndrome. They usually consist of missense or truncating gene mutations or deletions. Duplications involving multiple genes encoding for different sodium channels are not widely known. This article summarizes the clinical, radiologic, and genetic features of patients with 2q24 duplication involving the sodium channel gene cluster.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine

UniBE Contributor:

Goeggel, Barbara; Rieubland, Claudine; Strozzi, Susi; Tschumi, Sibylle; Gallati, Sabina and Lemke, Johannes

ISSN:

0013-9580

ISBN:

0013-9580

Publisher:

Wiley-Blackwell

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:39

Last Modified:

06 Dec 2013 13:37

Publisher DOI:

10.1111/j.1528-1167.2012.03676.x

PubMed ID:

23016767

Additional Information:

Simonetti, Barbara Goeggel Rieubland, Claudine Courage, Carolina Strozzi, Susi Tschumi, Sibylle Gallati, Sabina Lemke, Johannes R.

URI:

https://boris.unibe.ch/id/eprint/15843 (FactScience: 223323)

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