作者
Elena Gardella, Felicitas Becker, Rikke S Møller, Julian Schubert, Johannes R Lemke, Line HG Larsen, Hans Eiberg, Michael Nothnagel, Holger Thiele, Janine Altmüller, Steffen Syrbe, Andreas Merkenschlager, Thomas Bast, Bernhard Steinhoff, Peter Nürnberg, Yuan Mang, Louise Bakke Møller, Pia Gellert, Sarah E Heron, Leanne M Dibbens, Sarah Weckhuysen, Hans Atli Dahl, Saskia Biskup, Niels Tommerup, Helle Hjalgrim, Holger Lerche, Sándor Beniczky, Yvonne G Weber
发表日期
2016/3
期刊
Annals of neurology
卷号
79
期号
3
页码范围
428-436
简介
Objective
Benign familial infantile seizures (BFIS), paroxysmal kinesigenic dyskinesia (PKD), and their combination—known as infantile convulsions and paroxysmal choreoathetosis (ICCA)—are related autosomal dominant diseases. PRRT2 (proline‐rich transmembrane protein 2 gene) has been identified as the major gene in all 3 conditions, found to be mutated in 80 to 90% of familial and 30 to 35% of sporadic cases.
Methods
We searched for the genetic defect in PRRT2‐negative, unrelated families with BFIS or ICCA using whole exome or targeted gene panel sequencing, and performed a detailed cliniconeurophysiological workup.
Results
In 3 families with a total of 16 affected members, we identified the same, cosegregating heterozygous missense mutation (c.4447G>A; p.E1483K) in SCN8A, encoding a voltage‐gated sodium channel. A founder effect was excluded by linkage analysis. All individuals …
学术搜索中的文章
E Gardella, F Becker, RS Møller, J Schubert, JR Lemke… - Annals of neurology, 2016