期刊
EPILEPSY RESEARCH
卷 108, 期 4, 页码 811-815出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.eplepsyres.2014.02.009
关键词
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). (C) 2014 Elsevier B.V. All rights reserved.
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