SCN8A epilepsy

Common Name(s)

SCN8A epilepsy, Infantile epileptic encephalopathy 13 (EIEE13)

SCN8A Epilepsy, also known as Epileptic Encephalopathy, early infantile, 13 (EIEE13), is a rare genetic condition that causes chronic seizures (epilepsy) and is caused by a change (mutation) in the SCN8A gene. Seizures seen in SCN8A epilepsy typically start at an early age, usually between birth and 18 months of age. The seizures usually include stiff muscles (tonic) and loss of consciousness followed by jerking of arms and legs as the body relaxes and the person returns to consciousness (clonic). These episodes usually last 1 to 3 minutes. Learning problems (intellectual disabilities), developmental delay, and low muscle tone (hypotonia) are also usually seen in children who have this condition.

SCN8A epilepsy is inherited in an autosomal dominant manner, meaning a mutation in one of the two copies of the SCN8A gene a child has is enough to cause the condition. However, it is believed that most cases are due to a new mutation in the affected child and not inherited from a parent. This condition is considered in children who have seizures and learning problems. The doctor may use a test called an electroencephalogram (EEG) to measure electrical activity in the brain. In SCN8A epilepsy, the EEG shows a specific suppression-burst pattern that is different than most other forms of epilepsy. Although there is not a cure for SCN8A epilepsy, anti-seizure medications may help control some of the symptoms. If your child has been diagnosed with SCN8A epilepsy, talk to their doctor about all current treatment options. Support groups are a good resource for additional information and to connect with other families affected by this condition.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "SCN8A epilepsy" for support, advocacy or research.

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The Cute Syndrome Foundation

The Cute Syndrome is a 501(c)(3) public charity dedicated to funding research for and raising awareness of rare disorders like PCDH19 Epilepsy and SCN8A Epilepsy.

Last Updated: 14 May 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "SCN8A epilepsy" for support, advocacy or research.

Logo
The Cute Syndrome Foundation

The Cute Syndrome is a 501(c)(3) public charity dedicated to funding research for and raising awareness of rare disorders like PCDH19 Epilepsy and SCN8A Epilepsy.

http://thecutesyndrome.com

Last Updated: 14 May 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "SCN8A epilepsy" returned 7 free, full-text research articles on human participants. First 3 results:

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
 

Author(s): Ragna S Boerma, Kees P Braun, Marcel P H van den Broek, Maarten P H van de Broek, Frederique M C van Berkestijn, Marielle E Swinkels, Eveline O Hagebeuk, Dick Lindhout, Marjan van Kempen, Maartje Boon, Joost Nicolai, Carolien G de Kovel, Eva H Brilstra, Bobby P C Koeleman

Journal: Neurotherapeutics. 2016 Jan;13(1):192-7.

 

Mutations in SCN8A are associated with epilepsy and intellectual disability. SCN8A encodes for sodium channel Nav1.6, which is located in the brain. Gain-of-function missense mutations in SCN8A are thought to lead to increased firing of excitatory neurons containing Nav1.6, and therefore ...

Last Updated: 21 Jan 2016

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In response: SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
 

Author(s): Weijing Kong, Yujia Zhang, Yuwu Jiang

Journal: Epilepsia. 2015 Aug;56(8):1320.

 

Last Updated: 3 Aug 2015

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SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.
 

Author(s): Lai-Wah Eva Fung, Sui-Lam Jamie Kwok, Kwok-Wing Stephen Tsui

Journal: Epilepsia. 2015 Aug;56(8):1319-20.

 

Last Updated: 3 Aug 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "SCN8A epilepsy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.