Rufinamide efficacy and association with phenotype and genotype in children with intractable epilepsy: A retrospective single center study.

Abstract

OBJECTIVE:

To assess long-term efficacy and tolerability of rufinamide in children with epilepsy and a broad spectrum of underlying epileptic etiologies.

METHODS:

Patients with epilepsy treated with rufinamide between 1/1/2009 and 1/1/2018 at Seattle Children's Hospital were included. Data were collected via retrospective chart review. Rufinamide efficacy was defined as seizure reduction from baseline including seizure free, >50% reduction, any reduction, no reduction, or worsening seizures. Pearson's chi-square test was used for statistical analysis.

RESULTS:

183 patients (70 females and 113 males) with a broad spectrum of epileptic aetiologies (genetic/metabolic, hypoxic-ischemic, structural and others) were included. 45.9% of the patients had Lennox Gastaut syndrome. Rate of any seizure reduction was at 47.5%, seizure reduction >50% at 35%, and seizure free at 3.3%. Mean rufinamide dosage was 33.9 mg/kg/d (SD = 14.12). Mean duration of treatment was 44.48 months (SD 32.33). Suspected adverse effects occurred at 10.9%, most often as fatigue. Rufinamide achieved better seizure reduction in girls compared to boys [OR = 0.52, 95% CI (0.28, 0.97), p = 0.038]. Seizures were activated in a patient with a SCN1A mutation, fully controlled in a patient with a SCN8A mutation. Patients with certain genetic abnormalities such as DEPDC5, KCNQ2, SPATA5, and 47XYY achieved significant seizure reduction.

CONCLUSIONS:

Rufinamide is an effective and well-tolerated drug for long-term treatment in pediatric patients with intractable epilepsy. Certain genotypes such as SCN8A showed good response to rufinamide. Girls seemed to respond better than boys.

• Authors: Gabriela Oesch, Xiuhua Liang Bozarth
• Journal: Epilepsy research (Epilepsy Res) Vol. 168 Pg. 106211 (12 2020) ISSN: 1872-6844 [Electronic] Netherlands
• PMID: 31575436 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2019 Elsevier B.V. All rights reserved.

Chemical References

• Anticonvulsants
• Triazoles
• rufinamide

Topics

• Anticonvulsants (therapeutic use)
• Child
• Child, Preschool
• Drug Resistant Epilepsy (drug therapy)
• Epilepsy (drug therapy)
• Female
• Genotype
• Humans
• Infant
• Lennox Gastaut Syndrome (drug therapy)
• Male
• Phenotype
• Retrospective Studies
• Seizures (drug therapy)
• Triazoles (pharmacology)