⌘+K

Pulse Explore Communities Researchers Journals

Home Communities Explore

March 10, 2024

[Clinical and genetic characteristics of a child with Developmental and epileptic encephalopathy 104 due to variant of ATP6V0A1 gene].

Chengyan Li You Wang Siqi Chen S W Rong Binglong Huang Ling Liu Han Lou

View Full Paper

Ask AI

Bookmark

Share

Abstract

To explore the clinical phenotype and genetic etiology of a child with Developmental epileptic encephalopathy type 104 (DEE 104).

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Li et al. (2024) studied this question.

synapsesocial.com/papers/68e74cd0b6db6435876c5437 https://doi.org/10.3760/cma.j.cn511374-20221221-00881

View Full Paper

Ask AI

Bookmark

Share

Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Refractory focal seizures occurred in clusters in a girl with a de novo mutation of the ATP6V0A1 gene: a case report.Case Report · 2026
2Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing2025 · 7 citations
3Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort studyCohort Study · 2026
4<i>ATP1A2</i>‐related epileptic encephalopathy and movement disorder: Clinical features of three novel patients2024 · 7 citations
5The importance of genetic testing in managing developmental epileptic encephalopathy in resource-limited settings: a case reportCase Report · 2026