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A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

Epilepsy research - 1 May 2014

Zanni Ginevra, Barresi Sabina, Cohen Roni, Specchio Nicola, Basel-Vanagaite Lina, Valente Enza Maria, Shuper Avinoam, Vigevano Federico, Bertini Enrico

Abstract excerpt

Mutations in the solute carrier family 9, subfamily A member 6 (SLC9A6) gene, encoding the endosomal Na+/H+ exchanger 6 (NHE6) are associated with Christianson syndrome, a syndromic form of X-linked intellectual disability characterized by microcephaly, severe global developmental delay, autistic behavior, early onset seizures and ataxia. In a 7-year-old boy with characteristic clinical and neuroimaging features...

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Identifiers

PMID: 24630051
DOI: 10.1016/j.eplepsyres.2014.02.009

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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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