Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

被引：194

作者：

Sugawara, T

Mazaki-Miyazaki, E

Fukushima, K

Shimomura, J

Fujiwara, T

Hamano, S

Inoue, Y

Yamakawa, K

机构：

[1] RIKEN, Brain Sci Inst, Lab Neurogenet, Wako, Saitama 3510198, Japan

[2] Shizuoka Med Inst Neurol Disorders, Natl Epilepsy Ctr, Shizuoka, Japan

来源：

NEUROLOGY | 2002年 / 58卷 / 07期

关键词：

D O I：

10.1212/WNL.58.7.1122

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the neuronal voltage-gated sodium channel alpha-subunit type I gene (SCN1A) were found responsible for severe myoclonic epilepsy in infancy (SMEI). The authors describe novel mutations of SCN1A in Japanese patients with SMEI. They screened 12 unrelated patients and a pair of monozygotic twins and detected 10 mutations that lead to truncation of the protein.

引用

收藏

页码：1122 / 1124

页数：3

相关论文

共 10 条

[1] PROPOSAL FOR REVISED CLASSIFICATION OF EPILEPSIES AND EPILEPTIC SYNDROMES [J].

不详 .

EPILEPSIA, 1989, 30 (04) :389-399

[2] Genetic predisposition to severe myoclonic epilepsy in infancy [J].

Benlounis, A ;

Nabbout, R ;

Feingold, J ;

Parmeggiani, A ;

Guerrini, R ;

Kaminska, A ;

Dulac, O .

EPILEPSIA, 2001, 42 (02) :204-209

[3] Genetic basis and molecular mechanism for idiopathic: ventricular fibrillation [J].

Chen, QY ;

Kirsch, GE ;

Zhang, DM ;

Brugada, R ;

Brugada, J ;

Brugada, P ;

Potenza, D ;

Moya, A ;

Borggrefe, M ;

Breithardt, G ;

Ortiz-Lopez, R ;

Wang, Z ;

Antzelevitch, C ;

O'Brien, RE ;

Schulze-Bahr, E ;

Keating, MT ;

Towbin, JA ;

Wang, Q .

NATURE, 1998, 392 (6673) :293-296

[4] De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy [J].

Claes, L ;

Del-Favero, J ;

Ceulemans, B ;

Lagae, L ;

Van Broeckhoven, C ;

De Jonghe, P .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (06) :1327-1332

[5]

Dravet C., 1982, ADV EPILEPTOL, P135

[6] 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

[7] CLINICOELECTROGRAPHIC CONCORDANCE BETWEEN MONOZYGOTIC TWINS WITH SEVERE MYOCLONIC EPILEPSY IN INFANCY [J].

FUJIWARA, T ;

NAKAMURA, H ;

WATANABE, M ;

YAGI, K ;

SEINO, M ;

NAKAMURA, H .

EPILEPSIA, 1990, 31 (03) :281-286

[8] Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2 [J].

Spampanato, J ;

Escayg, A ;

Meisler, MH ;

Goldin, AL .

JOURNAL OF NEUROSCIENCE, 2001, 21 (19) :7481-7490

[9] A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction [J].

Sugawara, T ;

Tsurubuchi, Y ;

Agarwala, KL ;

Ito, M ;

Fukuma, G ;

Mazaki-Miyazaki, E ;

Nagafuji, H ;

Noda, M ;

Imoto, K ;

Wada, K ;

Mitsudome, A ;

Kaneko, S ;

Montal, M ;

Nagata, K ;

Hirose, S ;

Yamakawa, K .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (11) :6384-6389

[10] Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1 subunit gene SCN1B [J].

Wallace, RH ;

Wang, DW ;

Singh, R ;

Scheffer, IE ;

George, AL ;

Phillips, HA ;

Saar, K ;

Reis, A ;

Johnson, EW ;

Sutherland, GR ;

Berkovic, SF ;

Mulley, JC .

NATURE GENETICS, 1998, 19 (04) :366-370