Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus

被引：50

作者：

Annesi, G

Gambardella, A

Carrideo, S

Incorpora, G

Labate, A

Pasqua, AA

Civitelli, D

Polizzi, A

Annesi, F

Spadafora, P

Tarantino, P

Candiano, ICC

Romeo, N

De Marco, EV

Ventura, P

LePiane, E

Zappia, M

Aguglia, U

Pavone, L

Quattrone, A

机构：

[1] Magna Graecia Univ Catanzaro, Fac Med & Chirurg, Cattedra UO Neurol, Inst Neurol, I-88100 Catanzaro, Italy

[2] CNR, Inst Neurol Sci, Cosenza, Italy

[3] Catania Univ, Inst Pediat, Catania, Italy

[4] Hosp Reggio Calabria, Reg Epilepsy Ctr, Calabria, Italy

来源：

EPILEPSIA | 2003年 / 44卷 / 09期

关键词：

D O I：

10.1046/j.1528-1157.2003.22503.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：1257 / 1258

页数：2

共 6 条

[1] First genetic evidence of GABAA receptor dysfunction in epilepsy:: a mutation in the γ2-subunit gene [J].

Baulac, S ;

Huberfeld, G ;

Gourfinkel-An, I ;

Mitropoulou, G ;

Beranger, A ;

Prud'homme, JF ;

Baulac, M ;

Brice, A ;

Bruzzone, R ;

LeGuern, E .

NATURE GENETICS, 2001, 28 (01) :46-48

[2] 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

[3] 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

[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] Severe infantile epilepsies: molecular genetics challenge clinical classification [J].

Scheffer, IE .

BRAIN, 2003, 126 :513-514

[6] 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 →