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Conference Paper: Dravet syndeome: genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children
| Title | Dravet syndeome: genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children |
|---|---|
| Authors | |
| Keywords | Medical sciences |
| Issue Date | 2012 |
| Publisher | Hong Kong Academy of Medicine Press. The Journal's web site is located at http://www.hkmj.org.hk |
| Citation | The 25th Annual Scientific Meeting of The Hong Kong Neurological Society (HKNS), Hong Kong, 3-4 November 2012. In Hong Kong Medical Journal, 2012, v. 18 n. 6 suppl. 5, p. 35, abstract no. P8 How to Cite? |
| Abstract | BACKGROUND: For Dravet syndrome (DS), 80% had mutation in SCN1A gene, which encoded a voltagegated sodium channel. Recent study demonstrated that 16% of SCN1A-negative patients had mutations in protocadherin-19 (PCDH19) genes. The present study examined the genetic mutations in Chinese DS children and assessed the relationship betw... |
| Description | Poster Session |
| Persistent Identifier | http://hdl.handle.net/10722/183928 |
| ISSN | 2021 Impact Factor: 1.256 2020 SCImago Journal Rankings: 0.357 |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Wong, VCN | en_US |
| dc.contributor.author | Kwong, A | en_US |
| dc.contributor.author | Fung, CW | en_US |
| dc.date.accessioned | 2013-06-18T04:29:12Z | - |
| dc.date.available | 2013-06-18T04:29:12Z | - |
| dc.date.issued | 2012 | en_US |
| dc.identifier.citation | The 25th Annual Scientific Meeting of The Hong Kong Neurological Society (HKNS), Hong Kong, 3-4 November 2012. In Hong Kong Medical Journal, 2012, v. 18 n. 6 suppl. 5, p. 35, abstract no. P8 | en_US |
| dc.identifier.issn | 1024-2708 | - |
| dc.identifier.uri | http://hdl.handle.net/10722/183928 | - |
| dc.description | Poster Session | - |
| dc.description.abstract | BACKGROUND: For Dravet syndrome (DS), 80% had mutation in SCN1A gene, which encoded a voltagegated sodium channel. Recent study demonstrated that 16% of SCN1A-negative patients had mutations in protocadherin-19 (PCDH19) genes. The present study examined the genetic mutations in Chinese DS children and assessed the relationship betw... | - |
| dc.language | eng | en_US |
| dc.publisher | Hong Kong Academy of Medicine Press. The Journal's web site is located at http://www.hkmj.org.hk | - |
| dc.relation.ispartof | Hong Kong Medical Journal | en_US |
| dc.rights | Hong Kong Medical Journal. Copyright © Hong Kong Academy of Medicine Press. | - |
| dc.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
| dc.subject | Medical sciences | - |
| dc.title | Dravet syndeome: genetic analysis of SCN1A and PCDH19 mutations for 17 Chinese children | en_US |
| dc.type | Conference_Paper | en_US |
| dc.identifier.email | Wong, VCN: vcnwong@hku.hk | en_US |
| dc.identifier.email | Kwong, A: kkyanna@hku.hk | en_US |
| dc.identifier.email | Fung, CW: fcw1209m@hkucc.hku.hk | en_US |
| dc.identifier.authority | Wong, VCN=rp00334 | en_US |
| dc.description.nature | published_or_final_version | - |
| dc.identifier.hkuros | 214824 | en_US |
| dc.identifier.volume | 18 | - |
| dc.identifier.issue | 6 suppl. 5 | - |
| dc.identifier.spage | 35, abstract no. P8 | - |
| dc.identifier.epage | 35, abstract no. P8 | - |
| dc.publisher.place | Hong Kong | - |
| dc.customcontrol.immutable | sml 131122 | - |
| dc.identifier.issnl | 1024-2708 | - |