Phenotype and genetic spectrum of epilepsy with myoclonic-atonic seizures

Takeaway

  • Epilepsy with myoclonic-atonic seizures (MAE) is genetically heterogeneous and associated with significant neurodevelopmental impairment.

Why this matters

  • MAE, also known as Doose syndrome or myoclonic astatic epilepsy, is a rare childhood epilepsy syndrome accounting for 0.3–2.2% of all childhood epilepsy.

  • The clinical and genetic spectrum of MAE is not yet well understood, but patterns have emerged from the literature.

    • Neurodevelopmental impairments are commonly reported, including intellectual disability in up to 60% of patients and autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) in up to 45%.

    • Pathogenic genetic variants have been reported in 16 different genes, with the most enriched gene, SLC6A1, accounting for 3.7% of all reported cases.

  • Greater knowledge of the genetic spectrum and neurodevelopmental comorbidities associated with MAE is needed.

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