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).
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 ) .
Mutation of which gene is implicated in the Christianson syndrome?
Mutation of which gene is implicated in the Christianson syndrome ?
SLC9A6
SLC9A6