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Article: Genetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients

TitleGenetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patients
Authors
KeywordsDna Mutational Analysis
Epilepsies
Febrile
Mutation
Myoclonic
Nerve Tissue Proteins
Seizures
Issue Date2011
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 2011, v. 17 n. 6, p. 500-502 How to Cite?
AbstractEpilepsy is a clinically and genetically heterogeneous group of disorders. The advent of molecular genetics brings unprecedented advancement in diagnostic molecular pathology and reduces over-reliance on traditional clinical classification. Severe myoclonic epilepsy of infancy or Dravet syndrome is a catastrophic infantile-onset epilepsy. We report two unrelated Hong Kong Chinese patients with this condition presenting with febrile seizures, epilepsy with different semiologies, psychomotor retardation, and recurrent status epilepticus. Two different mutations were characterised, viz NM_001165963.1: c.680T>G; NP_001159435.1: p.I227S and NM_001165963.1: c.3953T>G; NP_001159435.1: p.L1318R (novel). Genetic characterisation conveys a definitive diagnosis and is important from the perspective of selecting anti-epileptic drug therapy and genetic counselling.
Persistent Identifierhttp://hdl.handle.net/10722/148671
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_US
dc.contributor.authorChan, KYen_US
dc.contributor.authorYau, EKCen_US
dc.contributor.authorChen, SPLen_US
dc.contributor.authorSiu, WKen_US
dc.contributor.authorLaw, CYen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorChan, AYWen_US
dc.date.accessioned2012-05-29T06:14:34Z-
dc.date.available2012-05-29T06:14:34Z-
dc.date.issued2011en_US
dc.identifier.citationHong Kong Medical Journal, 2011, v. 17 n. 6, p. 500-502en_US
dc.identifier.issn1024-2708en_US
dc.identifier.urihttp://hdl.handle.net/10722/148671-
dc.description.abstractEpilepsy is a clinically and genetically heterogeneous group of disorders. The advent of molecular genetics brings unprecedented advancement in diagnostic molecular pathology and reduces over-reliance on traditional clinical classification. Severe myoclonic epilepsy of infancy or Dravet syndrome is a catastrophic infantile-onset epilepsy. We report two unrelated Hong Kong Chinese patients with this condition presenting with febrile seizures, epilepsy with different semiologies, psychomotor retardation, and recurrent status epilepticus. Two different mutations were characterised, viz NM_001165963.1: c.680T>G; NP_001159435.1: p.I227S and NM_001165963.1: c.3953T>G; NP_001159435.1: p.L1318R (novel). Genetic characterisation conveys a definitive diagnosis and is important from the perspective of selecting anti-epileptic drug therapy and genetic counselling.en_US
dc.languageengen_US
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.htmlen_US
dc.relation.ispartofHong Kong Medical Journalen_US
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectDna Mutational Analysisen_US
dc.subjectEpilepsiesen_US
dc.subjectFebrileen_US
dc.subjectMutationen_US
dc.subjectMyoclonicen_US
dc.subjectNerve Tissue Proteinsen_US
dc.subjectSeizuresen_US
dc.titleGenetic diagnosis of severe myoclonic epilepsy of infancy (Dravet syndrome) with SCN1A mutations in the Hong Kong Chinese patientsen_US
dc.typeArticleen_US
dc.identifier.emailLaw, CY:ericlaw@pathology.hku.hken_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLaw, CY=rp01586en_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturepublished_or_final_versionen_US
dc.identifier.pmid22147323-
dc.identifier.scopuseid_2-s2.0-83255176275en_US
dc.identifier.hkuros221013-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-83255176275&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume17en_US
dc.identifier.issue6en_US
dc.identifier.spage500en_US
dc.identifier.epage502en_US
dc.publisher.placeHong Kongen_US

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