Abstract
Background:
Mutations of SLC9A6 may cause an X-linked clinical syndrome first described by Christianson in 1999 in which affected males exhibited profound intellectual disability, autism, drug-resistant epilepsy, ophthalmoplegia, mild craniofacial dysmorphism, microcephaly, and ataxia.
Methods:
We describe a child with an SLC9A6 mutation and an electroencephalographic pattern consistent with electrographic status epilepticus of sleep.
Results:
Our patient's electrographic status epilepticus of sleep resolved after treatment with felbamate. Following treatment, he remained seizure-free but did not make significant or lasting gains in language.
Conclusion:
Our report extends the clinical epilepsy phenotype in children with SLC9A6 mutations to include electrographic status epilepticus of sleep. In addition, felbamate was an effective treatment for electrographic status epilepticus of sleep in our patient.
Keywords:
Christianson syndrome; ESES; SLC9A6; epilepsy; felbamate.
Copyright © 2015 Elsevier Inc. All rights reserved.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
MeSH terms
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Anticonvulsants / administration & dosage
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Anticonvulsants / pharmacology*
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Ataxia / complications*
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Ataxia / genetics
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Child
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Epilepsy / complications*
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Epilepsy / genetics
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Felbamate
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Genetic Diseases, X-Linked / complications*
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Genetic Diseases, X-Linked / genetics
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Humans
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Intellectual Disability / complications*
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Intellectual Disability / genetics
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Male
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Microcephaly / complications*
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Microcephaly / genetics
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Ocular Motility Disorders / complications*
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Ocular Motility Disorders / genetics
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Phenylcarbamates / administration & dosage
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Phenylcarbamates / pharmacology*
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Propylene Glycols / administration & dosage
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Propylene Glycols / pharmacology*
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Sleep Wake Disorders / drug therapy*
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Sleep Wake Disorders / etiology
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Sleep Wake Disorders / genetics
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Sodium-Hydrogen Exchangers / genetics*
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Status Epilepticus / drug therapy*
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Status Epilepticus / etiology
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Status Epilepticus / genetics
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Treatment Outcome
Substances
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Anticonvulsants
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Phenylcarbamates
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Propylene Glycols
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SLC9A6 protein, human
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Sodium-Hydrogen Exchangers
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Felbamate
Supplementary concepts
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Mental Retardation, X-Linked, Syndromic, Christianson Type