Phenotype and genetic spectrum of epilepsy with myoclonic-atonic seizures


  • 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.

International Medical Press is a global provider of independent medical education. Its mission is to provide healthcare professionals with high-quality, trusted medical information with the aim of helping optimize patient care.

No responsibility is assumed by International Medical Press for any injury and/or damage to persons or property through negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Because of rapid advances in the medical sciences, International Medical Press recommends that independent verification of diagnoses and drug dosages should be made. The opinions expressed do not reflect those of International Medical Press or the sponsor. International Medical Press assumes no liability for any material contained herein.