Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay.

ABSTRACT:

Background

The SLC9A6 gene encodes a monovalent sodium-selective sodium/hydrogen exchanger that is essential in regulating endosomal PH and volume. SLC9A6 variants are associated with Christianson Syndrome, a severe neurodevelopmental disorder that is accompanied by seizures. It is unknown whether SLC9A6 variants are associated with milder phenotypes.

Method

Trio-based whole-exome sequencing was performed in unrelated cases (families) with epilepsy without acquired causes. Previously reported SLC9A6 variants were reviewed to analyze the mechanism underlying phenotype variations.

Results

Five hemizygous variants, including three null and two missense variants, were identified in five males. All the variants were absent in the gnomAD-all populations and the missense var

SUBMITTER: Jiao JP 

PROVIDER: S-EPMC12305939 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature