Mathot M, Lederer D, Gerard S, Gueulette E, Deprez M
Service de neuropédiatrie CHU UCL-Namur, place L.-Godin, 15, 5000 Namur, Belgique.
Institut de pathologie et de génétique, avenue G.-Lemaître, 25, 6041 Charleroi, Belgique.
Arch Pediatr. 2017 Oct;24(10):1010-1012. doi: 10.1016/j.arcped.2017.08.004. Epub 2017 Sep 1.
New genetic techniques have made it possible to better understand the implications of the PRRT2 gene (proline rich transmembrane protein 2) in various neurological disorders. Mutations within this gene are responsible for kinesigenic paroxysmal dyskinesias (PKD) as well as for benign familial infantile epilepsy (BFIE), a disease associating infantile convulsions and choreoathetosis (ICCA), a form of familial hemiplegic migraine (FHM type 4), paroxysmal benign torticollis of childhood, and episodic ataxia. We describe the case of an infant, carrying a mutation of the PRRT2 gene, with a classical presentation. Through her progression over time, we raise the question of systematic use of anti-epileptic drugs.
新的基因技术使人们能够更好地理解富含脯氨酸跨膜蛋白2（PRRT2基因）在各种神经系统疾病中的影响。该基因内的突变与运动诱发性阵发性运动障碍（PKD）、良性家族性婴儿癫痫（BFIE）有关，后者是一种伴有婴儿惊厥和舞蹈手足徐动症的疾病（ICCA）、一种家族性偏瘫性偏头痛（4型FHM）、儿童阵发性良性斜颈以及发作性共济失调。我们描述了一名携带PRRT2基因突变婴儿的典型病例。通过观察其随时间的病情进展，我们提出了抗癫痫药物系统性使用的问题。
