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This is a Literature Review study.

November 28, 2025S S Korsakov Journal of Neurology and Psychiatry

Evolution of DEE-SWAS into photosensitive epilepsy in a patient with an ASH1L gene mutation

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KRKhachatrian Rg

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Implication

Case demonstrates transformation of DEE-SWAS syndrome into photosensitive epilepsy in a child with ASH1L gene mutation, suggesting its link to neurological disorders.

Key Points

Photosensitive epilepsy developed in a child with intellectual disability and myoclonic seizures, indicating a severe outcome.
A de novo mutation in the ASH1L gene was identified, emphasizing its role in neurological disorders.
Observational analysis of clinical manifestations highlights the importance of ASH1L mutations in cognitive development.
Findings call for further research on genotype-phenotype correlations concerning ASH1L-related disorders.

Cite This Study

Khachatrian Rg (2025) studied this question.

synapsesocial.com/papers/6928f0f9a65b730b9ea79955 https://doi.org/10.17116/jnevro2025125102114

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Implication

Case demonstrates transformation of DEE-SWAS syndrome into photosensitive epilepsy in a child with ASH1L gene mutation, suggesting its link to neurological disorders.

Evolution of DEE-SWAS into photosensitive epilepsy in a patient with an ASH1L gene mutation

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Implication

Key Points

Cite This Study

Evolution of DEE-SWAS into photosensitive epilepsy in a patient with an ASH1L gene mutation

Discussion

Member takes

Implication

Key Points

Cite This Study

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