Jul 2026· BMJ Case Reports· Vol 19, pp. e273440· 0 citations· 18 references
Medicine
Abstract
A child with SCN1A-related ‘genetic epilepsy with febrile seizures plus’ (GEFS+) presented in infancy with recurrent febrile and afebrile seizures, frequently progressing to generalised tonic-clonic status epilepticus. Despite a severe seizure burden and typical Dravet-like triggers, neurodevelopment remained entirely normal and a familial SCN1A variant supported a diagnosis of GEFS+. The variant (c.5666T>A, p.Met1889Lys) was classified as a variant of uncertain significance fulfilling PM2, PP1 and PP3 criteria and absent from The Genome Aggregation Database (gnomAD) and ClinVar. Identification of the same variant in a neurodevelopmentally normal parent supported inherited GEFS+ rather than Dravet syndrome. After treatment failure with sodium valproate, clobazam and topiramate, low-dose fenfluramine (2.2 mg/day, 0.15 mg/kg/day) achieved seizure freedom maintained for more than 1 year with no adverse effects. This dose is substantially lower than the 0.2–0.7 mg/kg/day used in Dravet syndrome trials, suggesting GEFS+ may require lower therapeutic thresholds.
Pathogenic variants in SCN1A are associated with a broad and overlapping spectrum of epilepsies, ranging from febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+) to severe developmental and epileptic encephalopathies (DEEs), most notably Dravet syndrome. SCN1A encodes the voltage-gated sodium chann...
J. Moon, Tae-Hoon Eom· Current Issues in Molecular...· 0 citations
Because of persistent seizures despite antiseizure medications, glycerol phenylbutyrate (GPB), a prodrug of 4-PBA, was initiated, resulting in complete seizure freedom and reduction of epileptiform discharges on follow-up electroencephalography.
O. El Ghawi, Eniya Beemarajan, Debopam Samanta et al.· Journal of Child Neurology· 0 citations
A boy with normal early development who developed progressive aphasia and non-motor seizures around age three is described, with electroencephalographic findings consistent with spike-wave activation during slow sleep, while neuroimaging and metabolic evaluations were normal.
Mahmoud Mohammadi, Reza Shervin Badv, Z. Rezaei et al.· Iranian journal of child neu...· 0 citations
Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy (DEE) characterized by seizures and developmental delay/regression, primarily caused by loss-of-function (LoF) variants in the SCN1A gene, which encodes the Nav1.1 sodium channel. Hyperexcitability in DS results from impaired inhibitory interne...
Pascal Fenske, A. Abrahamyan, Konstantin L. Makridis et al.· Frontiers in Pharmacology· 0 citations
Introduction Adults with Developmental and epileptic encephalopathies (DEE) within the Lennox-Gastaut Syndrome (LGS) spectrum suffer disabling convulsive seizures which may remain refractory and are associated with increased risk of hospitalisations and death. Fenfluramine (FFA) was licenced in the UK for seizures asso...
Lisa Chilson, Boubker Zaaimi, S. Samarasekera· Epilepsy & Behavior Reports· 0 citations
Earlier SCB initiation was associated with earlier seizure offset and more favourable developmental outcomes, underscoring the importance of early genetic diagnosis and timely SCB therapy, and the use of SCBs, particularly CBZ and OXC, as first-line therapy in (LOF) KCNQ2-DEE and SeL(F)NE is supported.
C. Millevert, M. Hairabedian, Samuel Dahan et al.· Brain : a journal of neurolo...· 1 citation
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