Neurology January 2019 PMID 30541864

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Danique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T Myers, Mark F Bennett, Wenshu XiangWei, Danielle Williams, Saskia M Maas, Alice S Brooks, Grazia M S Mancini, Ingrid M B H van de Laar, Johanna M van Hagen

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AI synopsis

What people are saying

The conversations highlight key features of the syndrome, like seizures triggered by eating and behavioral issues, with references to specific genetic studies, indicating moderate engagement and recognition of the article's relevance; words like 'best understand' and mentions of 'characteristics' reflect a focus on applying this knowledge clinically.

AgreementModerate agreement

Most discussions acknowledge the importance of understanding the new encephalopathy and its genetic basis, indicating general agreement on its significance.

InterestModerate interest

The posts show curiosity and a desire to deepen understanding by referencing specific papers and suggesting additional sources, reflecting moderate interest.

EngagementModerate engagement

Participants actively discuss the clinical features, such as seizure types and behavioral traits, and consider implications for diagnosis and management, showing thoughtful engagement.

ImpactModerate impact

These discussions suggest recognition of the article's potential to influence clinical practice and future research on genetic encephalopathies.

Abstract in brief

The study describes a distinctive developmental and epileptic syndrome primarily caused by mutations or microdeletions on chromosome 6p21.3, characterized by generalized epilepsy, including specific seizure types such as eyelid myoclonia and atonic seizures, with most patients showing developmental delays before seizure onset.
A total of 57 patients, mostly male with a median age of 8, exhibited common features like moderate to severe intellectual disability, behavioral problems, hypotonia, autism spectrum disorder, and unique traits like a high pain threshold and seizures triggered by eating.
The condition, termed a developmental and epileptic encephalopathy (DEE), involves early developmental regression or plateauing, and features a collection of seizure types and behavioral issues, with the syndrome highlighting a strong genetic basis linked to chromosome 6p21.3 abnormalities.

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