A novel inherited SCN1A mutation associated with GEFS+ in benign and encephalopathic epilepsy
| Autor: | Louis N. Manganas, Richard H. Mattson, Angela C. Gauthier |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
Adult
Male 0301 basic medicine Pediatrics medicine.medical_specialty medicine.medical_treatment Mutation Missense Scn1a mutation Audiology Seizures Febrile 03 medical and health sciences Epilepsy Physiology (medical) medicine Humans Allele Cognitive decline Child business.industry General Medicine medicine.disease Penetrance Pedigree NAV1.1 Voltage-Gated Sodium Channel 030104 developmental biology Neurology Mutation (genetic algorithm) Epilepsy Generalized Female Surgery Neurology (clinical) business Generalized epilepsy with febrile seizures plus Ketogenic diet |
| Zdroj: | Journal of Clinical Neuroscience. 40:82-84 |
| ISSN: | 0967-5868 |
| DOI: | 10.1016/j.jocn.2017.02.011 |
| Popis: | Generalized epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant condition often caused by mutations in SCN1A that usually first manifests as childhood simple febrile seizures but may progress to a variety of afebrile generalized seizure types. Here, we describe the case of an 8-year-old boy with a novel SCN1A mutation who developed febrile seizures at 10months of age which eventually advanced to frequent afebrile tonic-clonic seizures. His condition was unresponsive to several antiepileptic drugs and the ketogenic diet, and he experienced gradual cognitive decline. The patient's father carries the same novel mutation, but he only experienced childhood simple febrile seizures. SCN1A mutations display incomplete penetrance and variable expressivity, and the resulting severity may depend on the location and type of mutation, whether the mutation was spontaneous or inherited, and the effect of modifying alleles. The identification of novel pathogenic SCN1A mutations may eventually advance therapeutic development and prognostic capabilities. |
| Databáze: | OpenAIRE |
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