EPILEPSY & SCN2A

Seizures and epilepsy are not the same. An epileptic seizure is a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Epilepsy is a disease characterized by an enduring predisposition to generate epileptic seizures and by the neurobiological, cognitive, psychological, and social consequences of this condition. Translation: a seizure is an event and epilepsy is the disease involving recurrent unprovoked seizures.

  • At least two unprovoked (or reflex) seizures occurring greater than 24 hours apart.
  • One unprovoked (or reflex) seizure and a probability of further seizures similar to the general recurrence risk (at least 60%) after two unprovoked seizures, occurring over the next 10 years.
  • Diagnosis of an epilepsy syndrome. Epilepsy is considered to be resolved for individuals who had an age-dependent epilepsy syndrome but are now past the applicable age or those who have remained seizure-free for the last 10 years, with no seizure medicines for the last 5 years.

*All content above taken directly from the Epilepsy Foundation's website www.epilepsy.com

SCN2A RELATED DIAGNOSIS

However, a diagnosis of SCN2A related epilepsy is not always so easily defined. There are many seizure disorders associated with SCN2A: Benign Familial Infantile Seizures (type 3), Early Infantile Epileptic Encephalopathy (type 11), Otahara, West Syndrome, Generalized Epilepsy with Febrile Seizures, Migrating Partial Epilepsy of Infancy (MPEI a.k.a. as MMPSI), Infantile Spasms, and Severe Epilepsies (starting either in utero or before 3 months of age).

New Diagnosis?

Benign Familial

Neonatal/infantile seizures (BFNIS) is probably the least common presentation of an SCN2A mutation

  •  Neonatal/Infantile Seizures
  •  Type 3
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Ohtahara Syndrome

A severe, early-onset encephalopathy with a suppression-burst EEG. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures, but may also experience partial seizures, and rarely, myoclonic seizures.

  •  Newborns
  •  Tonic Seizures
  •  Partial Seizures
  •  Myoclonic Seizures (Rare)
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West Syndrome

A type of epilepsy with a characteristic age of onset (typical age when seizures start), pattern of seizures and electroencephalogram (EEG). This means that it is an ‘electroclinical epileptic syndrome’. The syndrome is called ‘West syndrome’ after Dr West, who first described the condition in his 4-month-old son in 1841. This type of epilepsy occurs in about one in 2,500-3,000 children. (Epilepsy Action)

  •  Infantile Spasms
  •  Electroencephalogram (EEG)
  •  1 in 2,500-3,000 children
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Migrating Partial Epilepsy of Infancy

Migrating Partial Epilepsy of Infancy (MPEI) or Malignant Migrating Partial Seizures of Infancy (MMPSI) is a severe form of epilepsy that begins very early in life. Recurrent seizures begin before the age of 6 months but commonly start within a few weeks of birth. The seizures do not respond well to treatment. Although affected individuals may develop normally at first, progression stalls and skills decline when seizures begin; as a result, affected individuals have profound developmental delay. The seizures in MMPSI are described as partial (or focal) because the seizure activity occurs in regions of the brain rather than affecting the entire brain. Seizure activity can appear in multiple locations in the brain or move (migrate) from one region to another during an episode. (NIH Library)

  •  Recurrent Seizures
  •  Severe Form of Epilepsy
  •  Partial (Focal) Seizures
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Lennox-Gastaut

A form of severe epilepsy that begins in childhood. Lennox-Gastaut syndrome begins with frequent seizures in early childhood, usually between ages 3 and 5. More than three-quarters of affected individuals have tonic seizures, which cause the muscles to stiffen (contract) uncontrollably. These seizures occur most often during sleep. Also common are atypical absence seizures, which cause a partial or complete loss of consciousness. Additionally, many affected individuals have drop attacks, which are sudden episodes of weak muscle tone. Drop attacks can result in falls that cause serious or life-threatening injuries. Other types of seizures have been reported less frequently in people with Lennox-Gastaut syndrome. (NIH Library)

  •  Begins in childhood
  •  Frequent Seizures
  •  Tonic Seizures
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POSSIBLE TREATMENTS FOR SCN2A RELATED EPILEPSY

Could genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders?
One study was completed on 71 patients in Germany and Denmark. The results suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function, characterized by slowing of fast inactivation, acceleration of its recovery or increased persistent sodium current. Further, a good response to sodium channel blockers clinically was found to be associated with a relatively small gain-of-function. In contrast, mutations in patients with late-onset forms and an insufficient response to sodium channel blockers were associated with loss-of-function effects, including a depolarizing shift of voltage-dependent activation or a hyperpolarizing shift of channel availability (steady-state inactivation).

To read more about the findings in this study published in the BRAIN (a journal of neurology) 2017 click the button below.
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Ways To Contribute

Whatever you decide, please let us know. We are here to support you with ideas, resources and more. Check out the FamilieSCN2A Fundraising Page on facebook to see how others have helped.

FUNdraising

FUNdraising is not only about money, it also raises public awareness of SCN2A and the issues around rare diseases in general.

Raise Awareness

Share your story with friends and family, in private and/or through social media. Share our website with them.

Donate

Make a tax deductible donation directly to the FamileSCN2A Foundation to be used for raising awareness, research and supporting families

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FirstGiving

Set up your own ‘First Giving’ page through the foundation to collect online donations.

Have a Party!

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Our goal is to find a cure!

Did you or your child just receive a new diagnosis of SCN2A? If so, please know you are not alone!