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- W2401756711 abstract "Introduction: We present a patient with Dravet syndrome (DS) caused by the SCN1A mutation, and with neonatal seizure history. Material and Methods: Patient medical history was reviewed with focus on onset age, seizure types, EEG features, neuroimaging studies and treatment response. Results: A 16-month-old boy with an abnormal perinatal period presented a seizure on the second day of life during febrile congenital infection. He had developed focal right-sided seizures with sensitivity to low-grade fever since 4 months of age. The SCN1A nonsense mutation was confirmed. Subsequent disease course with multiple seizure type’s development became consistent with DS clinical diagnosis.Conclusions: DS diagnosis should not be ruled out in patients with neonatal seizures who meet the clinical, EEG and evolution criteria for this syndrome." @default.
- W2401756711 created "2016-06-24" @default.
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- W2401756711 date "2016-01-01" @default.
- W2401756711 modified "2023-09-29" @default.
- W2401756711 title "Neonatal Seizures do not Exclude Dravet Syndrome Diagnosis" @default.
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- W2401756711 doi "https://doi.org/10.4172/2155-9562.1000360" @default.
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