Clinical correlations of mutations in the SCN1A gene:: From febrile seizures to severe myoclonic epilepsy in infancy
Clinical correlations of mutations in the SCN1A gene:: From febrile seizures to severe myoclonic epilepsy in infancy
复制标题
DOI：
10.1016/j.pediatrneurol.2003.10.012
复制
发表时间：
2004-04-01
影响因子：
3.8
通讯作者：
Lagae, LG
中科院分区：
文献类型：
--
作者：
Ceulemans, BPGM;Claes, LRF;Lagae, LG
第一神经元钠通道基因SCNIA的α亚基突变已在婴儿期严重肌阵挛性癫痫或Dravet综合征的孤立患者和全身性癫痫伴热性惊厥加的家族中描述。为了确定表型/基因型的相关性，我们回顾了所有已发表的SCNIA突变病例，以及本文报道的4例新患者。共观察到60个突变。约52%（31/60）的截短突变与34例患者中的32例（94%）新发经典Dravet综合征病例相关。错义突变在成孔部分占27%（16/60），对应于12/16（75%）患者的经典类型。电压传感器的错义突变存在于12%（7/60），并与婴儿期从热性惊厥加严重肌阵挛性癫痫的临床表现相关。在这些区域之外，错义突变是罕见的，仅占10%（6/60），主要对应于热性惊厥+。这些结果表明，SCN 1A突变的临床谱范围从热性惊厥，热性惊厥+，在一个温和的类型，以经典形式的严重肌阵挛性癫痫在婴儿期，并确认了临床经验，严重肌阵挛性癫痫在婴儿期是最严重的形式在这个频谱。(C)2004年，Elsevier Inc. All rights reserved.
Mutations in the alpha-subunit of the first neuronal sodium channel gene SCNIA have been described in isolated patients with severe myoclonic epilepsy in infancy or Dravet syndrome and in families with generalized epilepsy with febrile seizures plus. To rind phenotype/genotype correlations, we reviewed all published cases of mutations in SCNIA in addition to four new patients reported here. A total of 60 mutations were observed. Approximately 52% (31/60) are truncating mutations correlating with de novo cases of classical Dravet syndrome in 32 of 34 (94%) patients. Missense mutations in the pore-forming part constitute 27% (16/60) and correspond to a classical type in 12 of 16 (75%) patients. Missense mutations in the voltage sensor were present in 12% (7/60) and correlate with a clinical picture ranging from febrile seizures plus to severe myoclonic epilepsy in infancy. Outside these regions missense mutations are rare and account for only 10% (6/60), corresponding mostly with febrile seizures plus. These results illustrate that the clinical spectrum of SCN1A mutations ranges from febrile seizures, febrile seizures plus, over a milder type to the classical form of severe myoclonic epilepsy in infancy, and confirm the clinical experience that severe myoclonic epilepsy in infancy is the most severe form on this spectrum. (C) 2004 by Elsevier Inc. All rights reserved.