The clinical characters and gene detection in a familial temporal lobe epilepsy with auditory aura.

The clinical characters and gene detection in a familial temporal lobe epilepsy with auditory aura.:

Related Articles

The clinical characters and gene detection in a familial temporal lobe epilepsy with auditory aura.

J Clin Neurosci. 2020 Feb 05;:

Authors: Zhang L, Jia Y, Wang Y

Abstract

Auditory aura was the very important clinical character in familial temporal Lobe epilepsy. LGI1 was the main pathogenic gene. The inheritance mode of this disease was autosomal dominant. We describes the clinical characters and gene detection in 7 patients in a temporal lobe epilepsy family with auditory aura. All patients in this family were diagnosed as temporal lobe epilepsy and had the same mutation: the splice site mutation in No. 2 base of the intron after the first exon in gene LGI1, c.215+2T>A, which induced the abnormal expression of peptide protein after the No. 71 amino acid encoded by LGI1. Some of the antiepileptic drugs, such as carbamazepine, oxcarbazepine, could be effective.

PMID: 32035795 [PubMed - as supplied by publisher]