Epilepsy with myoclonic atonic seizures (also known as Doose syndrome) presents distinct treatment challenges. When a pathogenic variant in the SLC6A1 gene underlies the condition, this genetic finding defines a specific clinical subgroup with its own evidence base for antiseizure medication selection.
Pathogenic variant in the SLC6A1 gene — a genetically confirmed basis for the epilepsy that directly informs which antiseizure treatments are most appropriate for this patient.
Valproate has been reported as the most effective drug for SLC6A1-related epilepsies, with lamotrigine and ethosuximide also showing efficacy.
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