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Article

Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation.

BMJ case reports - 22 Dec 2017

Padmanabha Hansashree, Saini Arushi Gahlot, Sahu Jitendra Kumar, Singhi Pratibha

Abstract excerpt

SLC9A6 gene encodes for a sodium/hydrogen exchanger-6 protein mainly involved in endosomal trafficking and maintaining intraluminal pH. Loss of function mutations in SLC9A6 gene in children has been associated with Christianson syndrome and autism spectrum disorder. We describe a 3-year-old boy with intellectual disability, infantile-onset drug-refractory epilepsy, progressive brain atrophy and large head with a...

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Identifiers

PMID: 29275387
DOI: 10.1136/bcr-2017-222050
PMCID: PMC5780601

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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