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Acta Neurológica Colombiana

versão impressa ISSN 0120-8748


RESTREPO, Daniel Alejandro et al. Refractory epilepsy with febrile seizures in a child with sodium channel alpha subunit mutation (SCN1A): A case report. Acta Neurol Colomb. [online]. 2020, vol.36, n.1, pp.26-33. ISSN 0120-8748.

We report the case of a 10-year-old female with a history of severe myoclonic epilepsy of infancy who presents with generalized tonic-clonic (GTC) seizures at 6 months of age after administration of a DPT vaccine, who then begins to present frequent and severe GTC seizures, myoclonic seizures and multiple refractory status epilepticus poorly controlled with first and second line anti-epileptic drugs (AEDs). This was accompanied by development delay. Studies performed on the patient included brain MRI which was normal, immunodeficiency and trombophilic studies which were normal and electroencephalographs: studies (EEG) that were at first mostly normal. The most significant findings were seen during a 12-hour video-EEG which reported epileptogenic activity in central region with bilateral dissemination and a PET-CT that showed metabolism alterations in the left temporal region. Due to this presentation a channelopathy was suspected and a coding region sequentiation study was performed which identified a frameshift mutation of the SCN1A gene confirming the diagnosis. Atipically, after 5 years the patient begins to present a favorable evolution with significant seizure remission even allowing the progressive weaning of AEDs and a remarkable stalemate of developmental delay after interdisciplinary rehabilitation process was started.

Palavras-chave : NAV1.1 Voltage-Gated Sodium Channel; Epilepsies, Myoclonic; Seizures, Febrile; Drug Resistant Epilepsy; Refractory Epilepsies (MeSH).

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