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).
authors.affiliation: Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address: ginevra.zanni@opbg.net.
authors.forename: Ginevra
authors.initials: G
authors.lastname: Zanni
authors.affiliation: Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Sabina
authors.initials: S
authors.lastname: Barresi
authors.affiliation: Schneider's Children Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Roni
authors.initials: R
authors.lastname: Cohen
authors.affiliation: Division of Neurology, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Nicola
authors.initials: N
authors.lastname: Specchio
authors.affiliation: Schneider's Children Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Lina
authors.initials: L
authors.lastname: Basel-Vanagaite
authors.affiliation: Unit of Neurogenetics, Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Institute, San Giovanni Rotondo, Italy.
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
authors.affiliation: Schneider's Children Medical Center of Israel and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: Avinoam
authors.initials: A
authors.lastname: Shuper
authors.affiliation: Division of Neurology, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.affiliation: Unit of Molecular Medicine for Neuromuscular and Neurodegenerative disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
mesh_terms: D001259:Ataxia / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D004827:Epilepsy / Q000235:genetics* / Q000503:physiopathology; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D015835:Ocular Motility Disorders / Q000235:genetics* / Q000503:physiopathology; D012890:Sleep / Q000235:genetics*; D017923:Sodium-Hydrogen Exchangers / Q000235:genetics*; D013226:Status Epilepticus / Q000235:genetics* / Q000503:physiopathology
chemical_list: C445316:SLC9A6 protein, human; D017923:Sodium-Hydrogen Exchangers
keywords: Christianson syndrome; ESES; NHE6; SLC9A6