Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay
Junping Jiao, Hongwei Zhang, Xi-zhong Zhou, Shujuan Tian et autres
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 …
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Orphanet Journal of Rare Diseases