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.