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

Ginevra Zanni, Sabina Barresi, Roni Cohen, Nicola Specchio, Lina Basel-Vanagaite, Enza Maria Valente, Avinoam Shuper, Federico Vigevano, Enrico Bertini

Research output: Contribution to journalArticle

22 Citations (Scopus)

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).

Original languageEnglish
Pages (from-to)811-815
Number of pages5
JournalEpilepsy Research
Volume108
Issue number4
DOIs
Publication statusPublished - 2014

Fingerprint

Sodium-Hydrogen Antiporter
Status Epilepticus
Sleep
Microcephaly
Mutation
Brain Diseases
Ataxia
Neuroimaging
Intellectual Disability
Seizures
Genes
Mental Retardation, X-Linked, Syndromic, Christianson Type

Keywords

  • Christianson syndrome
  • ESES
  • NHE6
  • SLC9A6

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

Cite this

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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).",
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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",
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AU - Zanni, Ginevra

AU - Barresi, Sabina

AU - Cohen, Roni

AU - Specchio, Nicola

AU - Basel-Vanagaite, Lina

AU - Valente, Enza Maria

AU - Shuper, Avinoam

AU - Vigevano, Federico

AU - Bertini, Enrico

PY - 2014

Y1 - 2014

N2 - 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).

AB - 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).

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