What does this research mean for the field?

ACTH therapy is associated with sustained electroclinical improvement in selected genetically defined developmental and epileptic encephalopathies, with variability in treatment response potentially explained by network-level interactions between ion channel-related genes and intracellular signaling pathways. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

Evaluate electroclinical responses to synthetic adrenocorticotropic hormone (ACTH) and investigate underlying protein-protein interaction networks in patients with monogenic developmental and epileptic encephalopathies.

August 22, 2026Epileptic Disorders

Efficacy of synthetic ACTH in confirmed and presumed monogenic developmental and epileptic encephalopathies

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Authors

ÇKÇisem Duman KayarIstanbul University SASinan AkbaşIstanbul University FKFulya KürekçiŞanlıurfa Mehmet Akif İnan Eğitim ve Araştırma Hastanesi

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Implication

Retrospective study demonstrates sustained seizure reduction after synthetic ACTH in monogenic epileptic encephalopathies, highlighting molecular pathways underlying treatment response.

Key Points

Evaluate electroclinical responses to synthetic adrenocorticotropic hormone (ACTH) and investigate underlying protein-protein interaction networks in patients with monogenic developmental and epileptic encephalopathies.
Retrospective single-center review of 245 patients with developmental and epileptic encephalopathies treated between 2017 and 2025, analyzing 10 patients harboring pathogenic, likely pathogenic, or uncertain variants who received ACTH.
Clinical and electroencephalographic (EEG) responses were evaluated at 2 weeks and 3 months (responders defined as ≥50% seizure reduction), with extended 1-year evaluations and protein-protein interaction (PPI) network analyses.
At 2 weeks, 5 of 10 patients achieved seizure freedom and 3 of 10 achieved ≥50% seizure reduction; at 3 months, 66.6% (6/9) of evaluable patients were responders.
At 1 year, patients with SCN2A and PIGT variants showed sustained ≥50% seizure reduction, normalized background EEG activity, and resolved epileptiform discharges.
PPI network analysis identified functional interactions linking intracellular signaling pathways to ion channel genes (CALM-SCN2A/CACNA1E and PRKAC-SCN1A).

Cite This Study

Kayar et al. (2026) studied this question.

synapsesocial.com/papers/6a895f62ca7ade938187df4d https://doi.org/10.1002/epd2.70382

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Implication

Retrospective study demonstrates sustained seizure reduction after synthetic ACTH in monogenic epileptic encephalopathies, highlighting molecular pathways underlying treatment response.

Efficacy of synthetic ACTH in confirmed and presumed monogenic developmental and epileptic encephalopathies

Discussion

Member takes

Implication

Key Points

Cite This Study

Efficacy of synthetic ACTH in confirmed and presumed monogenic developmental and epileptic encephalopathies

Discussion

Member takes

Implication

Key Points

Cite This Study

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