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.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.pediatrneurol.2015.07.007 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Quantitative evaluation of electrographic response to electroconvulsive therapy in super-refractory status epilepticus.
Front Neurol
December 2024
Department of Neurology, University of California, San Francisco, San Francisco, CA, United States.
Objective: Electroconvulsive therapy (ECT) has been occasionally applied as a treatment for super-refractory status epilepticus (SRSE). However, the effects of ECT on electrographic activity and related clinical outcomes are largely unknown. Here, we use quantitative approaches on electroencephalography (EEG) data to evaluate the neurophysiological influences of ECT and how they may relate to patient survival.
View Article and Find Full Text PDFAccuracy of a Rapid-Response EEG's Automated Seizure-Burden Estimator: AccuRASE Study.
Neurology
January 2025
Neurology, Yale School of Medicine, New Haven, CT.
Background And Objectives: The use of rapid response EEG (rr-EEG) has recently expanded in limited-resource settings and as a supplement to conventional EEG to rapidly detect and treat nonconvulsive status epilepticus. The study objective was to test the accuracy of an rr-EEG's automated seizure burden estimator (ASBE).
Methods: This is a retrospective observational study using multiple blinded reviewers.
Cortical hemodynamics of electrographic status epilepticus in the critically ill.
Epilepsia
December 2024
Department of Neurosciences, Université de Montréal, Montréal, Québec, Canada.
Objectives: The pathophysiological mechanisms of status epilepticus (SE) underlying potential brain injury remain largely unclear. This study aims to employ functional near-infrared spectroscopy (fNIRS) combined with video-electroencephalography (vEEG) to monitor brain hemodynamics continuously and non-invasively in critically ill adult patients experiencing electrographic SE. Our primary focus is to investigate neurovascular coupling and cerebrovascular changes associated with seizures, particularly during recurring and/or prolonged episodes.
View Article and Find Full Text PDFEffects of immune modulatory treatment on language and psychiatric profile in patients with electrical status epilepticus in sleep (ESES).
Epilepsy Behav
December 2024
Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye.
Electrical status epilepticus in sleep (ESES) is an electrographic pattern associated with cognitive impairment. Our study aimed to prospectively evaluate the psychiatric findings and language skills in patients diagnosed with ESES and to determine the immune modulatory treatment-responsive subgroups. We assessed the patients for psychiatric features and language skills at the baseline and 12 months after.
View Article and Find Full Text PDFElectrocardiographic changes in severe quetiapine poisoning.
Clin Toxicol (Phila)
December 2024
Department of Forensic Medicine, Graduate School of Biomedical and Health Sciences, Hiroshima University, Hiroshima City, Hiroshima, Japan.
Introduction: Quetiapine shares sodium channel-blocking properties with tricyclic antidepressants. We present the electrographic findings in two patients with severe quetiapine poisoning.
Case Summaries: Two patients poisoned with quetiapine presented with impaired consciousness, requiring mechanical ventilation and vasopressor support, with one also experiencing status epilepticus.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!