SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy

被引：56

作者：

Morimoto, Masafumi ^{[1
]}

Mazaki, Emi ^{[1
]}

Nishimura, Akira ^{[1
]}

Chiyonobu, Tomohiro ^{[1
]}

Sawai, Yasuko ^{[1
]}

Murakami, Aki ^{[1
]}

Nakamura, Keiko ^{[1
]}

Inoue, Ikuyo ^{[1
]}

Ogiwara, Ikuo ^{[1
]}

Sugimoto, Tohru ^{[1
]}

Yamakawa, Kazuhiro ^{[1
]}

机构：

[1] Kyoto Prefectural Univ Med, Dept Pediat, Kamigyo Ku, Kyoto 6028566, Japan

来源：

EPILEPSIA | 2006年 / 47卷 / 10期

关键词：

severe myoclonic epilepsy in infancy; SCN1A; mosaicism;

D O I：

10.1111/j.1528-1167.2006.00645.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Purpose: To investigate the genetic background of familial severe myoclonic epilepsy in infancy (SMEI) cases. Methods: We performed mutation analyses of the sodium-channel gene SCN1A in two Japanese brothers with clinical features of SMEI and their parents, who had no history of febrile and epileptic seizures. Results: Each patient showed nucleotide changes (c.[730G > T; 735G > T; 736A > T]) in the coding exon 6 of SCN1A that led to a truncation of the channel protein. Their father showed no mutations, but their mother showed the same mutation in a subpopulation of lymphocytes. Conclusions: The maternal mosaicism explains the identical SCN1A mutations in the two brothers. This highlights the importance of investigating parental mosaicism even in sporadic SMEI cases.

引用

页码：1732 / 1736

页数：5

共 17 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] 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

[4]

Dravet C., 1982, ADV EPILEPTOL, P135

[5] 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

[6] Mutations of sodium channel α subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures [J].

Fujiwara, T ;

Sugawara, T ;

Mazaki-Miyazaki, E ;

Takahashi, Y ;

Fukushima, K ;

Watanabe, M ;

Hara, K ;

Morikawa, T ;

Yagi, K ;

Yamakawa, K ;

Inoue, Y .

BRAIN, 2003, 126 :531-546

[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] Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy [J].

Genmaro, E ;

Santorelli, FM ;

Bertini, E ;

Buti, D ;

Gaggero, R ;

Gobbi, G ;

Lini, M ;

Granata, T ;

Freri, E ;

Parmeggiani, A ;

Striano, P ;

Veggiotti, P ;

Cardinali, S ;

Bricarelli, FD ;

Minetti, C ;

Zara, F .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2006, 341 (02) :489-493

[9]

Gennaro E, 2003, EPILEPTIC DISORD, V5, P21

[10] A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures [J].

Kimura, K ;

Sugawara, T ;

Mazaki-Miyazaki, E ;

Hoshino, K ;

Nomura, Y ;

Tateno, A ;

Hachimori, K ;

Yamakawa, K ;

Segawa, M .

BRAIN & DEVELOPMENT, 2005, 27 (06) :424-430

← 1 2 →