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

Cohort studyEpileptic disorders : international epilepsy journal with videotape· Aug 2026

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

Çisem Duman Kayar, Sinan Akbaş, Fulya Kürekçi … Edibe Pembegül Yıldız

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Child NeurologyCohort studyQ2IF 1.9

66.6% of genetically defined developmental and epileptic encephalopathies patients responded to adrenocorticotropic hormone at 3 months

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

Çisem Duman Kayar … Edibe Pembegül Yıldız

Epileptic disorders · Aug 2026 · Q2 in General Medicine

Background

Adrenocorticotropic hormone (adrenocorticotropic hormone) is an effective treatment for infantile epileptic spasms syndrome (infantile epileptic spasms syndrome); however, its mechanism of action remains incompletely understood.

Purpose

This study aimed to evaluate adrenocorticotropic hormone treatment response at the level of protein-protein interactions (protein-protein interactions) in patients with confirmed and presumed monogenic developmental and epileptic encephalopathies (developmental and epileptic encephalopathies).

Methods

Receiving adrenocorticotropic hormone therapy who harbored pathogenic, likely pathogenic, or variants of uncertain significance (variants of uncertain significance) were included in the study, whereas those with chromosomal abnormalities and insufficient clinical or follow-up data were excluded.

n = 245 patients

66.6%

Results

66.6%

two thirds sustained a major seizure reduction with adrenocorticotropic hormone at 3 months

n = 245 patients

More results

Among the 245 patients with developmental and epileptic encephalopathies, 69 had a confirmed genetic etiology, of whom 10 met the inclusion criteria.

At 2-week follow-up, 5 of 10 patients (SCN2A, ELOVL4, CACNA1E, TRRAP) achieved seizure freedom, while 3 (PIGT, SCN1A, ZNF526) showed ≥50% reduction.

More results

At 1 year, patients with SCN2A and PIGT variants showed sustained ≥50% seizure reduction, normalization of background electroencephalographic activity, and resolution of epileptiform discharges.

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Conclusion

The identified network-level interactions between ion channel-related genes and intracellular signaling pathways provide a potential molecular framework for understanding variability in treatment response.

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

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

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