Treatment of Epilepsy with Myoclonic Atonic Seizures in Patients with a Pathogenic CHD2 Gene Variant
This protocol addresses epilepsy with myoclonic atonic seizures in the specific clinical context of a confirmed pathogenic variant in the CHD2 gene — a genetically defined subset with distinct therapeutic considerations.
Clinical scenario
The patient carries a pathogenic variant in the CHD2 gene. Recent preclinical and clinical evidence identifies this genetic context as relevant to treatment selection for myoclonic atonic epilepsy.
Treatment approach
A carbonic anhydrase inhibitor is among the agents supported by evidence in this genetically defined population.
Full regimen, sequencing, and additional options are in the complete protocol →
References
Additionally, recent preclinical and clinical evidence supports acetazolamide for treating epilepsies caused by CHD2 variants.
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