Severe Infantile Multifocal Epilepsy (SIMFE) describes a form of epilepsy that begins in the first year of life, with no known cause other than fever (febrile seizures). This disorder has many similar clinical features to other forms of Dravet Spectrum Disorders, but is distinguished by multifocal seizures rather than generalized seizures typical in other Dravet spectrum disorders. The term multifocal refers to seizures in that they arise from many different locations in the brain. Children with SIMFE are likely to have simple partial seizures or complex partial seizures. Children with SIMFE do not have absence or myoclonic seizures.
Like the more severe forms of Dravet Spectrum Disorders, seizures associated with SIMFE tend to be refractory, which means that seizures are hard to control with antiepilepsy medicines. Seizures can be frequent and severe in childhood. Most children with SIMFE have moderate to severe cognitive delay beginning after the second year of life. Other neurologic signs include poor coordination of muscles (ataxia) and an unusual tightness in the muscles (spasticity).Genetic mutation in the SCN1A gene is detected through genetic studies in many patients with SIMFE.
For general information on gene mutations:
Summary of Severe Infantile Multifocal Epilepsy (SIMFE)
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