10 verified cohort papers are represented in this rebuilt research snapshot, with family-readable summaries and audited primary patient rows where public tables or supplements were extractable. Notes summarize public papers only and should not be read as case-specific clinical guidance.
Data last updated: May 22, 2026
Showing 1-8 of 10 papers
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Iwama et al. 2025 · Primary Cohort
Clinical and genetic spectrum of patients with IRF2BPL syndrome
Iwama et al. 2025 expands the known IRF2BPL syndrome spectrum by describing 10 people from nine families with nine pathogenic variants, eight of them newly reported. The paper is especially useful because it includes missense and in-frame variants, not only truncating variants. Across the cohort, seizures, developmental delay, autism features, dystonia, ataxia, abnormal EEG, and MRI changes appeared in different combinations. For families, the study shows why patient-level detail matters: the same gene can be linked to early epilepsy, later movement symptoms, and variable development.
This 2024 study looked for IRF2BPL changes in 300 unrelated people in Taiwan who had dystonia without a known genetic diagnosis. The researchers found one teenager with a new, disease-causing IRF2BPL variant, p.Gln127Ter, and then compared her features with previously published IRF2BPL cases. The paper shows that IRF2BPL is a rare cause of dystonia, but it also supports an important pattern: where a variant falls in the IRF2BPL protein may influence whether epilepsy, dystonia, ataxia, or regression are more prominent.
This 2024 paper reported three boys with IRF2BPL-related developmental epileptic disorder and tested the gene in a zebrafish model. All three children had developmental delay, infantile epileptic spasms, hypsarrhythmia on EEG, language delay, and developmental regression; two had MRI abnormalities and some movement-related findings. The authors found three de novo IRF2BPL variants and showed that disrupting the zebrafish irf2bpl gene caused shorter body length and seizure-like electrical activity. The study adds clinical details and functional support that IRF2BPL loss can contribute to early epilepsy and developmental regression.
This 2023 brief communication reported three unrelated adults with IRF2BPL variants whose symptoms fit progressive myoclonus epilepsy, a condition with worsening myoclonic jerks, generalized seizures, ataxia, and gradual neurologic decline. All three had de novo nonsense variants clustered near the start of IRF2BPL, around a conserved coiled-coil region. The authors also reviewed 31 earlier IRF2BPL cases and suggested some may have had unrecognized PME. The paper matters because it added IRF2BPL to the growing list of genes that can cause PME.
This study describes 18 individuals from two families with IRF2BPL variants, showing that the condition is more diverse than previously thought. While many known cases involve severe childhood regression (NEDAMSS), this paper highlights a milder path: childhood learning difficulties followed by movement challenges (ataxia) that begin in adulthood (ages 21-53). It also identifies incomplete penetrance, meaning someone can carry the gene change without showing symptoms. This research helps doctors recognize the condition in adults and explains why symptoms can vary so much, even within the same family.
This 2023 case series reported four people with novel IRF2BPL variants found through exome sequencing: two children with developmental delay, one adult woman with progressive ataxia and parkinsonism, and one teenager with progressive walking and cognitive problems. The paper broadens the known IRF2BPL spectrum by showing that not all affected people have early seizures or clear regression, and that adult-onset movement symptoms can occur. It also highlights uncertainty when another epilepsy-related gene variant is found in the same person.
Niu et al. 2021 focused on six young children with IRF2BPL-related epilepsy treated at Peking University First Hospital. The paper is important because all six children began with seizures in infancy, all were diagnosed with infantile spasms, and all had developmental delay. The cohort also showed a mix of IRF2BPL variant types, including frameshift, missense, and in-frame deletion variants. For families, this paper helps explain the early-childhood epilepsy side of IRF2BPL-related disorder and highlights EEG, MRI, treatment, and developmental patterns.
This 2019 short report connected IRF2BPL to an inherited dystonia syndrome in a mother and son who had generalized dystonia, severe loss of speech or voice, slow horizontal eye movements, and seizures with photic myoclonus. Reanalysis found a shared heterozygous IRF2BPL nonsense variant, c.355C>T, p.Gln119Ter, in the affected family members. The paper matters because it showed that IRF2BPL disease can be autosomal dominant and can present as a movement-disorder syndrome across generations, not only as de novo childhood epileptic encephalopathy.