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

作者：Zanni Ginevra^*; Barresi Sabina; Cohen Roni; Specchio Nicola; Basel Vanagaite Lina; Valente Enza Maria; Shuper Avinoam; Vigevano Federico; Bertini Enrico

来源：Epilepsy Research, 2014, 108(4): 811-815.

DOI：10.1016/j.eplepsyres.2014.02.009

• SLC9A6
• NHE6
• Christianson syndrome
• ESES

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).

• 出版日期2014-5