Coto Eliecer, Armenta Daniel, Espinosa Raúl, Argente Joaquín, Castro Mónica G, Alvarez Victoria
Genética Molecular, Hospital Central Asturias, Oviedo, Spain.
Mov Disord. 2005 Dec;20(12):1626-9. doi: 10.1002/mds.20637.
Hyperekplexia is commonly familial and with dominant transmission. The gene involved, GLRA1, encodes the alpha1 subunit of the glycine receptor. We describe 3 affected children homozygous for a new mutation, R100H. Both parents were heterozygous carriers; while the father was healthy, the mother has periodic limb movements during sleep. This suggests that Hys-100 could exhibit incomplete penetrance, but was linked to a severe classical form of hyperekplexia in homozygous.
惊跳症通常具有家族性且呈显性遗传。相关基因GLRA1编码甘氨酸受体的α1亚基。我们描述了3名因新突变R100H而纯合的患病儿童。父母双方均为杂合携带者；父亲健康，而母亲在睡眠中有周期性肢体运动。这表明Hys - 100可能表现出不完全外显，但在纯合子时与严重的经典型惊跳症相关。
