Epilepsy and SCN2A

SCN2A RELATED DIAGNOSIS

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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)

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BENIGN FAMILIAL neonatal/infantile seizures (BFNIS) is probably the least common presentation of an SCN2A mutation.

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OHTAHARA SYNDROME: is 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.

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WEST SYNDROME (Infantile spasms) are 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)

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MIGRATING PARTIAL EPILEPSY OF INFANCY 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)

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LENNOX-GASTAUT: is 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)

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