Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family

被引：12

作者：

Azmanov, Dimitar N. ^{[1
,11
]}

Zhelyazkova, Sashka ^{[2
]}

Dimova, Petya S. ^{[3
]}

Radionova, Melania ^{[2
]}

Bojinova, Veneta ^{[3
]}

Florez, Laura ^{[1
,11
]}

Smith, Shelagh J. ^{[4
]}

Tournev, Ivailo ^{[2
,5
]}

Jablensky, Assen ^{[6
]}

Mulley, John ^{[7
]}

Scheffer, Ingrid ^{[8
,9
]}

Kalaydjieva, Luba ^{[1
,11
]}

Sander, Josemir W. ^{[4
,10
]}

机构：

[1] Univ Western Australia, Western Australian Inst Med Res, Perth, WA 6009, Australia

[2] Med Univ, Dept Neurol, Sofia, Bulgaria

[3] Med Univ, Clin Child Neurol, St Naum Univ Hosp Neurol & Psychiat, Sofia, Bulgaria

[4] UCL Inst Neurol, Dept Clin & Expt Epilepsy, London, England

[5] New Bulgarian Univ, Dept Cognit Sci & Psychol, Sofia, Bulgaria

[6] Univ Western Australia, Sch Psychiat & Clin Neurosci, Perth, WA 6009, Australia

[7] Womens & Childrens Hosp, Epilepsy Res Program, Adelaide, SA, Australia

[8] Univ Melbourne, Dept Med, Heidelberg, Vic, Australia

[9] Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Melbourne, Vic, Australia

[10] SEIN Epilepsy Inst Netherlands Fdn, Heemstede, Netherlands

[11] Univ Western Australia, Mol Genet Lab, Med Res Ctr, Perth, WA 6009, Australia

来源：

EPILEPTIC DISORDERS | 2010年 / 12卷 / 02期

基金：

英国医学研究理事会;

关键词：

Dravet syndrome; GEFS; SCN1A; mutation; mosaicism; febrile seizures plus; borderline SMEI; SEVERE MYOCLONIC EPILEPSY; FEBRILE SEIZURES; SODIUM-CHANNEL; INFANCY SMEI; GENERALIZED EPILEPSY; GENE SCN1A; SPECTRUM;

D O I：

10.1684/epd.2010.0311

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

SCN1A mutations account for a large proportion of Dravet syndrome patients, and are reported in other cases of epilepsy, such as some families with genetic epilepsy with febrile seizures plus (GEFS+). While most Dravet syndrome cases are caused by de novo mutations, 5% inherit a mutation from a mildly affected or symptom-free parent. Parental mosaicism has been identified, with documented cases involving truncating mutations or gene rearrangements. We describe a Roma/Gypsy family, where a missense mutation in SCN1A, p.D194N, is transmitted from a mosaic GEFS+ father to a child with Dravet syndrome. Mosaicism may be more common than assumed and should be considered regardless of the nature of the mutation.

引用

页码：117 / 124

页数：8

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