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<p>With the aims of expanding the description of new clinical manifestations occurring in patients with mutations in the <i>ASH1L</i> gene and evaluating genotype–phenotype correlations for variants of <i>ASH1L</i> mutations, a clinical case of a patient with an <i>ASH1L</i> mutation with intellectual disability, EEG changes with formation of a SWAS pattern, and subsequent development of photoinduced epilepsy is presented. A de novo frameshift mutation in the <i>ASH1L</i> gene, c.3971_3972delTT (p.Phe1324fs), was identified in a seven-year-old boy with intellectual disability, learning difficulties, and myoclonic seizures. A literature review was conducted to identify the clinical core of the pathological conditions associated with this genetic lesion. This clinical observation provides the first description of the development of DEE-SWAS syndrome in a carrier of a mutation of this type followed by transformation into photoinduced epilepsy, which adds to the known clinical characteristics of the disease and emphasizes the importance of this gene for the normal functioning of the nervous system. Mutations in <i>ASH1L</i> are apparent as severe neurological disorders, autism spectrum disorders, and intellectual disability. This observation also suggests that <i>ASH1L</i> mutations may be associated with DEE-SWAS syndrome and photosensitive epilepsy.</p>

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Evolution of DEE-SWAS into Photosensitive Epilepsy in a Patient with a Mutation in the ASH1L Gene

  • 期刊论文

  • 发表日期：

    2026年3月16日

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  • R. G. Khachatryan

摘要

With the aims of expanding the description of new clinical manifestations occurring in patients with mutations in the ASH1L gene and evaluating genotype–phenotype correlations for variants of ASH1L mutations, a clinical case of a patient with an ASH1L mutation with intellectual disability, EEG changes with formation of a SWAS pattern, and subsequent development of photoinduced epilepsy is presented. A de novo frameshift mutation in the ASH1L gene, c.3971_3972delTT (p.Phe1324fs), was identified in a seven-year-old boy with intellectual disability, learning difficulties, and myoclonic seizures. A literature review was conducted to identify the clinical core of the pathological conditions associated with this genetic lesion. This clinical observation provides the first description of the development of DEE-SWAS syndrome in a carrier of a mutation of this type followed by transformation into photoinduced epilepsy, which adds to the known clinical characteristics of the disease and emphasizes the importance of this gene for the normal functioning of the nervous system. Mutations in ASH1L are apparent as severe neurological disorders, autism spectrum disorders, and intellectual disability. This observation also suggests that ASH1L mutations may be associated with DEE-SWAS syndrome and photosensitive epilepsy.