Key result
A novel SCN1A missense mutation (c.5549T>G) was identified in a 14-year-old male with movement-induced reflex seizures, which were successfully controlled with oxcarbazepine 0.6 g/day.
Case Report (n=1)
No
Identifies a novel SCN1A missense mutation associated with movement-induced reflex epilepsy, expanding the known genotype-phenotype spectrum.
Extends SCN1A phenotype spectrum in reflex epilepsy; hypothesis-generating and requires validation before broader testing or treatment implications.
A 14-year-old male patient was admitted to the hospital due to epileptic seizures, which occurred at the beginning of running exercise after being stopped and fast walking. Seizures were consistently characterized by a dystonic posture of the distal portion of the left arm-flexed and adducted by the chest without loss of consciousness. We suspected that this was movement-induced reflex epilepsy and performed whole exome sequencing. Whole exome sequencing revealed a novel SCN1A missense mutation, c.5549T>G (p.Ile1850Ser). SCN1A mutations have not been reported in patients with reflex epilepsy induced by movement. This report enriches the genotypes and phenotypes of SCN1A-related epilepsy and provides further insight into the etiology of reflex epilepsy induced by movement.
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Gong et al. (2023) conducted a case report in Movement-induced reflex epilepsy (n=1). Oxcarbazepine was evaluated on Epileptic seizures. A novel SCN1A missense mutation (c.5549T>G) was identified in a 14-year-old male with movement-induced reflex seizures, which were successfully controlled with oxcarbazepine 0.6 g/day.
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