Varaico: Literature-Extracted Genetic Variants

Gene:DEPDC5
Variant:p.E448*
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DEPDC5

NM_001242896.3:p.E448*

Associated Papers

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Chen S et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.

Wang H et al.

Epilepsia Open, 2023

37259768 (PubMed )
Supplement: EPI4-8-969-s002.pdf

Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.

Bacq A et al.

Annals of Neurology, 2022

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