Seizure phenotypes of a family with missense mutations in SCN2A

被引：27

作者：

Ito, M

Shirasaka, Y

Hirose, S

Sugawara, T

Yamakawa, K

机构：

[1] Shiga Med Ctr Children, Dept Pediat, Moriyama 5245200, Japan

[2] Kobe City Gen Hosp, Dept Pediat, Kobe, Hyogo, Japan

[3] Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan

[4] Fukuoka Univ, Sch Med, Dept Pediat, Fukuoka 81401, Japan

[5] RIKEN, Brain Sci Inst, Neurogenet Lab, Wako, Saitama 35101, Japan

来源：

PEDIATRIC NEUROLOGY | 2004年 / 31卷 / 02期

关键词：

D O I：

10.1016/j.pediatrneurol.2004.02.013

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The seizure phenotypes of a Japanese family with missense mutations in SCN2A are described. The proband of the family had partial epilepsy after febrile seizures plus. He had three missense mutations of SCN2A (R19K, R188W, and R524Q). The R188W mutation was suggested by electrophysiologic studies to be the main disease mutation. However, it is suggested that the penetrance rate of this pedigree is extremely low, or that other genes may have modified the phenotype of the proband. (C) 2004 by Elsevier Inc. All rights reserved.

引用

页码：150 / 152

页数：3

共 10 条

[1] 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

[2] A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -: and prevalence of variants in patients with epilepsy [J].

Escayg, A ;

Heils, A ;

MacDonald, BT ;

Haug, K ;

Sander, T ;

Meisler, MH .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (04) :866-873

[3] Sodium-channel defects in benign familial neonatal-infantile seizures [J].

Heron, SE ;

Crossland, KM ;

Andermann, E ;

Phillips, HA ;

Hall, AJ ;

Bleasel, A ;

Shevell, M ;

Mercho, S ;

Seni, MH ;

Guiot, MC ;

Mulley, JC ;

Berkovic, SF ;

Scheffer, IE .

LANCET, 2002, 360 (9336) :851-852

[4] Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel α1 subunit gene, SCN1A [J].

Ito, M ;

Nagafuji, H ;

Okazawa, H ;

Yamakawa, K ;

Sugawara, T ;

Mazaki-Miyazaki, E ;

Hirose, S ;

Fukuma, G ;

Mitsudome, A ;

Wada, K ;

Kaneko, S .

EPILEPSY RESEARCH, 2002, 48 (1-2) :15-23

[5] Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans [J].

Nakayama, J ;

Yamamoto, N ;

Hamano, K ;

Iwasaki, N ;

Ohta, M ;

Nakahara, S ;

Horigome, Y ;

Nakahara, C ;

Noguchi, E ;

Shiono, J ;

Shimakura, Y ;

Yamakawa-Kobayashi, K ;

Matsui, A ;

Arinami, T .

NEUROSCIENCE LETTERS, 2002, 329 (02) :249-251

[6] Generalized epilepsy with febrile seizures plus - A genetic disorder with heterogeneous clinical phenotypes [J].

Scheffer, IE ;

Berkovic, SF .

BRAIN, 1997, 120 :479-490

[7] Naυ1.1 mutations cause febrile seizures associated with afebrile partial seizures [J].

Sugawara, T ;

Mazaki-Miyazaki, E ;

Ito, M ;

Nagafuji, H ;

Fukuma, G ;

Mitsudome, A ;

Wada, K ;

Kaneko, S ;

Hirose, S ;

Yamakawa, K .

NEUROLOGY, 2001, 57 (04) :703-705

[8] 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

[9] Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus [J].

Wallace, RH ;

Scheffer, IE ;

Barnett, S ;

Richards, M ;

Dibbens, L ;

Desai, RR ;

Lerman-Sagie, T ;

Lev, D ;

Mazarib, A ;

Brand, N ;

Ben-Zeev, B ;

Goikhman, I ;

Singh, R ;

Kremmidiotis, G ;

Gardner, A ;

Sutherland, GR ;

George, AL ;

Mulley, JC ;

Berkovic, SF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (04) :859-865

[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

← 1 →