Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation
نویسندگان
چکیده
R. Singh , S. Jayapal , S. Goyal , H. Jungbluth , K. Lascelles * Department of Paediatric Neurology, Evelina Children’s Hospital, Guys and St Thomas’ NHS Foundation Trust, United Kingdom Neurophysiology Department, Evelina Children’s Hospital, Guys and St Thomas’ NHS Foundation Trust, United Kingdom Randall Division of Cell and Molecular Biophysics, King’s College London, United Kingdom Department of Basic and Clinical Neuroscience, IoPPN, King’s College London, United Kingdom
منابع مشابه
Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy
De novo mutations of the voltage-gated sodium channel gene SCN8A have recently been recognized as a cause of epileptic encephalopathy, which is characterized by refractory seizures with developmental delay and cognitive disability. We previously described the heterozygous SCN8A missense mutation p.Asn1768Asp in a child with epileptic encephalopathy that included seizures, ataxia, and sudden une...
متن کاملSCN8A mutation in a child presenting with seizures and developmental delays
The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very ...
متن کاملRecurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy
Mutations of the voltage-gated sodium channel SCN8A have been identified in approximately 1% of nearly 1,500 children with early-infantile epileptic encephalopathies (EIEE) who have been tested by DNA sequencing. EIEE caused by mutation of SCN8A is designated EIEE13 (OMIM #614558). Affected children have seizure onset before 18 months of age as well as developmental and cognitive disabilities, ...
متن کاملCharacterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy
OBJECTIVE Recently, de novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathies (EIEE13). Functional studies on the first described case demonstrated gain-of-function effects of the mutation. We describe a novel de novo mutation of SCN8A in a patient with epileptic encephalopathy, and functional characterization of the mutant protein. DESIGN Wh...
متن کاملA novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy
Rare de novo mutations of sodium channels are thought to be an important cause of sporadic epilepsy. The well established role of de novo mutations of sodium channel SCN1A in Dravet Syndrome supports this view, but the etiology of many cases of epileptic encephalopathy remains unknown. We sought to identify the genetic cause in a patient with early onset epileptic encephalopathy by whole exome ...
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ورودعنوان ژورنال:
- Seizure
دوره 26 شماره
صفحات -
تاریخ انتشار 2015