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

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

39 Scopus citations

Abstract

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 of Christianson syndrome and epileptic encephalopathy with continuous spikes and waves during sleep, we identified a novel splice site mutation (IVS10-1G>A) in SLC9A6. These findings expand the clinical spectrum of the syndrome and indicate NHE6 dysfunction as a new cause of electrical status epilepticus during slow-wave sleep (ESES).

Original languageEnglish
Pages (from-to)811-815
Number of pages5
JournalEpilepsy Research
Volume108
Issue number4
DOIs
StatePublished - May 2014

Funding

FundersFunder number
Seventh Framework Programme260888

    Keywords

    • Christianson syndrome
    • ESES
    • NHE6
    • SLC9A6

    Fingerprint

    Dive into the research topics of 'A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)'. Together they form a unique fingerprint.

    Cite this