Subject: epilepsy
Subject: genes
Subject: ALDH7A1
Subject: SLC6A1mutation
Year: 2020
Type: Article
Title: EPILEPSY WITH HETEROZYGOUS ALDH7A1 AND SLC6A1 MUTATIONS
Author: Alili Ademi, Learta
Author: Duma, Filip
Author: Ademi, Blerim
Author: Muaremoska Kanzoska, Lejla
Author: Nonkulovski, Danilo
Abstract: ABSTRACT Epilepsy is one of the most common neurologic disorders, 75% of which begins during childhood. With the development of genetic technology, an increasing number of genes associated with epilepsy are identified. These discoveries will improve diagnosis and treatment of epilepsy and provide the basis for including genetic tests in clinical practice. We report cases of epilepsy in two sisters with heterozygous mutations in ALDH7A1 and SLC6A1 gene. Including genetic tests in the clinical practice and evaluating the results of genetic tests with the goal to better characterize the association between genes and epilepsies and to further understand the mechanisms of underlying epilepsy. The variant c.-17C>G, in 5-UTR of ALDH7A1 and c.1436G>A (p.Arg479Gln) in exon 14 of SLC6A1 gene are mutations classified as a mutations with unknown clinical meaning. The presence of variants with unknown clinical meaning should not be neglected and should not affect the clinical course and treatment.
Publisher: SHMSHM - AAMD
Relation: Medicus
Identifier: oai:repository.ukim.mk:20.500.12188/15773
Identifier: http://hdl.handle.net/20.500.12188/15773Identifier: 25
Identifier: 2
