@article{ea3d0b99eaba476e8e06d378390537eb,
title = "A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES)",
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).",
keywords = "Christianson syndrome, ESES, NHE6, SLC9A6",
author = "Ginevra Zanni and Sabina Barresi and Roni Cohen and Nicola Specchio and Lina Basel-Vanagaite and Valente, \{Enza Maria\} and Avinoam Shuper and Federico Vigevano and Enrico Bertini",
year = "2014",
month = may,
doi = "10.1016/j.eplepsyres.2014.02.009",
language = "אנגלית",
volume = "108",
pages = "811--815",
journal = "Epilepsy Research",
issn = "0920-1211",
publisher = "Elsevier B.V.",
number = "4",
}