SCN1A (2528delG) novel truncating mutation with benign outcome of severe myoclonic epilepsy of infancy

被引：22

作者：

Buoni, S

Orrico, A

Galli, L

Zannolli, R

Burroni, L

Hayek, J

Fois, A

Sorrentino, V

机构：

[1] Univ Siena, Policlin Le Scotte, Dept Pediat, Sect Pediat Neurol,UOC Mol Med, I-53100 Siena, Italy

[2] Azienda Osped Univ Senese, Dept Oncol, Policlin Le Scotte, UOC Nucl Med, Siena, Italy

[3] Azienda Osped Univ Senese, Policlin Le Scotte, Neuropsychiat Unit, Siena, Italy

来源：

NEUROLOGY | 2006年 / 66卷 / 04期

关键词：

D O I：

10.1212/01.WNL.0000198504.41315.B1

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：606 / 607

页数：2

共 5 条

[1] Clinical correlations of mutations in the SCN1A gene:: From febrile seizures to severe myoclonic epilepsy in infancy [J].

Ceulemans, BPGM ;

Claes, LRF ;

Lagae, LG .

PEDIATRIC NEUROLOGY, 2004, 30 (04) :236-243

[2]

Dravet C, 2002, CURR PROB E, V17, P81

[3] Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 [J].

Escayg, A ;

MacDonald, BT ;

Meisler, MH ;

Baulac, S ;

Huberfeld, G ;

An-Gourfinkel, I ;

Brice, A ;

LeGuern, E ;

Moulard, B ;

Chaigne, D ;

Buresi, C ;

Malafosse, A .

NATURE GENETICS, 2000, 24 (04) :343-345

[4] Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy [J].

Ohmori, I ;

Ouchida, M ;

Ohtsuka, Y ;

Oka, E ;

Shimizu, K .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2002, 295 (01) :17-23

[5] Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy [J].

Sugawara, T ;

Mazaki-Miyazaki, E ;

Fukushima, K ;

Shimomura, J ;

Fujiwara, T ;

Hamano, S ;

Inoue, Y ;

Yamakawa, K .

NEUROLOGY, 2002, 58 (07) :1122-1124

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