Pizzuti Antonio, Flex Elisabetta, Di Bonaventura Carlo, Dottorini Tania, Egeo Gabriella, Manfredi Mario, Dallapiccola Bruno, Giallonardo Anna Teresa
Dipartimento di Medicina Sperimentale e Patologia, Università di Roma La Sapienza and Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo IRCSS, Istituto Mendel, Rome, Italy.
Ann Neurol. 2003 Mar;53(3):396-9. doi: 10.1002/ana.10492.
Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a genetically heterogeneous disorder. Some patients exhibit mutations in the leucine-rich glioma inactivated (LGI1) gene. In an ADPEAF family, a novel mutation in the Lgi1 signal peptide is predicted to interfere with the protein cell sorting, resulting in altered processing. This finding suggests a loss-of-function mechanism for LGI1 gene mutations causing ADPEAF even if other mechanisms cannot be ruled out.
常染色体显性遗传性听觉性部分性癫痫（ADPEAF）是一种基因异质性疾病。一些患者在富含亮氨酸的胶质瘤失活（LGI1）基因中表现出突变。在一个ADPEAF家族中，Lgi1信号肽中的一种新突变预计会干扰蛋白质的细胞分选，导致加工过程改变。这一发现提示LGI1基因突变导致ADPEAF的功能丧失机制，即便不能排除其他机制。
